chr4:1806163:A>T Detail (hg38) (FGFR3)

Information

Genome

Assembly Position
hg19 chr4:1,807,890-1,807,890 View the variant detail on this assembly version.
hg38 chr4:1,806,163-1,806,163

HGVS

Type Transcript Protein
RefSeq NM_001163213.1:c.1955A>T NP_001156685.1:p.Lys652Met
NM_022965.3:c.1937A>T NP_075254.1:p.Lys646Met
NM_000142.4:c.1949A>T NP_000133.1:p.Lys650Met
Summary

MGeND

Clinical significance Pathogenic
Variant entry 4
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 134934 OMIM
HGNC 3690 HGNC
Ensembl ENSG00000068078 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM6905932 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
Pathogenic other germline MGS000083
(TMGS000166) 		Kenjiro Kosaki
Kenjiro Kosaki		 Keio University
Keio University
Pathogenic other germline MGS000083
(TMGS000166) 		Kenjiro Kosaki
Kenjiro Kosaki		 Keio University
Keio University
Pathogenic other germline MGS000083
(TMGS000166) 		Kenjiro Kosaki
Kenjiro Kosaki		 Keio University
Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2008-01-15 no assertion criteria provided SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS unknown Detail
Pathogenic 2008-01-15 no assertion criteria provided Thanatophoric dysplasia type 1 unknown Detail
Pathogenic 2022-07-25 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2022-09-29 criteria provided, single submitter hypochondroplasia germline Detail
Pathogenic 2022-05-31 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,cervical cancer,achondroplasia,Levy-Hollister syndrome,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome unknown Detail
Pathogenic 2022-05-31 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,cervical cancer,achondroplasia,Levy-Hollister syndrome,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome unknown Detail
Pathogenic 2022-05-31 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,cervical cancer,achondroplasia,Levy-Hollister syndrome,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome unknown Detail
Pathogenic 2022-05-31 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,cervical cancer,achondroplasia,Levy-Hollister syndrome,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome unknown Detail
Pathogenic 2022-05-31 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,cervical cancer,achondroplasia,Levy-Hollister syndrome,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome unknown Detail
Pathogenic 2022-05-31 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,cervical cancer,achondroplasia,Levy-Hollister syndrome,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome unknown Detail
Pathogenic 2022-05-31 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,cervical cancer,achondroplasia,Levy-Hollister syndrome,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome unknown Detail
Pathogenic 2022-05-31 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,cervical cancer,achondroplasia,Levy-Hollister syndrome,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome unknown Detail
Pathogenic 2022-05-31 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,cervical cancer,achondroplasia,Levy-Hollister syndrome,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome unknown Detail
Pathogenic 2022-05-31 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,cervical cancer,achondroplasia,Levy-Hollister syndrome,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome unknown Detail
Pathogenic 2022-05-31 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,cervical cancer,achondroplasia,Levy-Hollister syndrome,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome unknown Detail
Pathogenic 2022-05-31 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,cervical cancer,achondroplasia,Levy-Hollister syndrome,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome unknown Detail
Pathogenic 2022-05-31 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,cervical cancer,achondroplasia,Levy-Hollister syndrome,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome unknown Detail
Pathogenic 2022-05-31 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,cervical cancer,achondroplasia,Levy-Hollister syndrome,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.457 THANATOPHORIC DYSPLASIA, TYPE I (disorder) NA CLINVAR Detail
<0.001 Developmental delay (disorder) We previously discovered a novel missense mutation (Lys650Met) in the tyrosine k... BeFree 10377013 Detail
0.002 chondrosarcoma Meclozine also ameliorated abnormally suppressed proliferation of human chondros... BeFree 24324705 Detail
0.495 Hypochondroplasia (disorder) NA CLINVAR Detail
0.442 Thanatophoric dysplasia, type 2 Two missense mutations in this codon are known to result in strong constitutive ... BeFree 11055896 Detail
0.122 Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans Two missense mutations in this codon are known to result in strong constitutive ... BeFree 11055896 Detail
0.457 THANATOPHORIC DYSPLASIA, TYPE I (disorder) FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric... BeFree 25119967 Detail
0.457 THANATOPHORIC DYSPLASIA, TYPE I (disorder) The FGFR3 Lys650Met mutation results in severe disturbances in endochondral bone... BeFree 10377013 Detail
0.621 achondroplasia We previously discovered a novel missense mutation (Lys650Met) in the tyrosine k... BeFree 10377013 Detail
0.150 thanatophoric dysplasia FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric... BeFree 25119967 Detail
<0.001 chondrosarcoma Meclozine also ameliorated abnormally suppressed proliferation of human chondros... BeFree 24324705 Detail
0.002 chondrosarcoma Meclozine also ameliorated abnormally suppressed proliferation of human chondros... BeFree 24324705 Detail
0.122 Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN)... BeFree 10377013 Detail
0.457 THANATOPHORIC DYSPLASIA, TYPE I (disorder) Two missense mutations in this codon are known to result in strong constitutive ... BeFree 11055896 Detail
0.007 Skeletal dysplasia FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric... BeFree 25119967 Detail
0.621 achondroplasia We refer to the phenotype caused by the Lys650Met mutation as severe achondropla... BeFree 10053006 Detail
0.007 Skeletal dysplasia A novel skeletal dysplasia with developmental delay and acanthosis nigricans is ... BeFree 10053006 Detail
0.122 Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans Prenatal and postnatal presentation of severe achondroplasia with developmental ... BeFree 18076102 Detail
<0.001 Developmental delay (disorder) We refer to the phenotype caused by the Lys650Met mutation as severe achondropla... BeFree 10053006 Detail
0.122 Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric... BeFree 25119967 Detail
0.014 acanthosis nigricans A novel skeletal dysplasia with developmental delay and acanthosis nigricans is ... BeFree 10053006 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) AND SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND... ClinVar Detail
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) AND Thanatophoric dysplasia type 1 ClinVar Detail
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) AND not provided ClinVar Detail
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) AND Hypochondroplasia ClinVar Detail
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) AND multiple conditions ClinVar Detail
NA DisGeNET Detail
We previously discovered a novel missense mutation (Lys650Met) in the tyrosine kinase domain of the ... DisGeNET Detail
Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cel... DisGeNET Detail
NA DisGeNET Detail
Two missense mutations in this codon are known to result in strong constitutive activation of the FG... DisGeNET Detail
Two missense mutations in this codon are known to result in strong constitutive activation of the FG... DisGeNET Detail
FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDA... DisGeNET Detail
The FGFR3 Lys650Met mutation results in severe disturbances in endochondral bone growth that approac... DisGeNET Detail
We previously discovered a novel missense mutation (Lys650Met) in the tyrosine kinase domain of the ... DisGeNET Detail
FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDA... DisGeNET Detail
Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cel... DisGeNET Detail
Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cel... DisGeNET Detail
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysi... DisGeNET Detail
Two missense mutations in this codon are known to result in strong constitutive activation of the FG... DisGeNET Detail
FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDA... DisGeNET Detail
We refer to the phenotype caused by the Lys650Met mutation as severe achondroplasia with development... DisGeNET Detail
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Me... DisGeNET Detail
Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis... DisGeNET Detail
We refer to the phenotype caused by the Lys650Met mutation as severe achondroplasia with development... DisGeNET Detail
FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDA... DisGeNET Detail
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Me... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs121913105 dbSNP
Genome
hg38
Position
chr4:1,806,163-1,806,163
Variant Type
snv
Reference Allele
A
Alternative Allele
T
Genome browser