chr4:1807260:T>A Detail (hg38) (FGFR3)

Information

Genome

Assembly Position
hg19 chr4:1,808,987-1,808,987 View the variant detail on this assembly version.
hg38 chr4:1,807,260-1,807,260

HGVS

Type Transcript Protein
RefSeq NM_001163213.1:c.2425T>A NP_001156685.1:p.Ter809Argext*?
NM_022965.3:c.2407T>A NP_075254.1:p.Ter803Argext*?
NM_000142.4:c.2419T>A NP_000133.1:p.Ter807Argext*?
Summary

MGeND

Clinical significance
Variant entry
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1995-05-01 no assertion criteria provided Thanatophoric dysplasia type 1 germline unknown Detail
Pathogenic 2022-09-12 criteria provided, single submitter not provided germline Detail
Pathogenic 2021-12-07 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Levy-Hollister syndrome,Germ cell tumor of testis,achondroplasia,hypochondroplasia,Malignant tumor of urinary bladder,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Crouzon syndrome-acanthosis nigricans syndrome,cervical cancer,Muenke Syndrome,Thanatophoric dysplasia, type 2 unknown Detail
Pathogenic 2021-12-07 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Levy-Hollister syndrome,Germ cell tumor of testis,achondroplasia,hypochondroplasia,Malignant tumor of urinary bladder,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Crouzon syndrome-acanthosis nigricans syndrome,cervical cancer,Muenke Syndrome,Thanatophoric dysplasia, type 2 unknown Detail
Pathogenic 2021-12-07 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Levy-Hollister syndrome,Germ cell tumor of testis,achondroplasia,hypochondroplasia,Malignant tumor of urinary bladder,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Crouzon syndrome-acanthosis nigricans syndrome,cervical cancer,Muenke Syndrome,Thanatophoric dysplasia, type 2 unknown Detail
Pathogenic 2021-12-07 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Levy-Hollister syndrome,Germ cell tumor of testis,achondroplasia,hypochondroplasia,Malignant tumor of urinary bladder,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Crouzon syndrome-acanthosis nigricans syndrome,cervical cancer,Muenke Syndrome,Thanatophoric dysplasia, type 2 unknown Detail
Pathogenic 2021-12-07 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Levy-Hollister syndrome,Germ cell tumor of testis,achondroplasia,hypochondroplasia,Malignant tumor of urinary bladder,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Crouzon syndrome-acanthosis nigricans syndrome,cervical cancer,Muenke Syndrome,Thanatophoric dysplasia, type 2 unknown Detail
Pathogenic 2021-12-07 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Levy-Hollister syndrome,Germ cell tumor of testis,achondroplasia,hypochondroplasia,Malignant tumor of urinary bladder,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Crouzon syndrome-acanthosis nigricans syndrome,cervical cancer,Muenke Syndrome,Thanatophoric dysplasia, type 2 unknown Detail
Pathogenic 2021-12-07 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Levy-Hollister syndrome,Germ cell tumor of testis,achondroplasia,hypochondroplasia,Malignant tumor of urinary bladder,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Crouzon syndrome-acanthosis nigricans syndrome,cervical cancer,Muenke Syndrome,Thanatophoric dysplasia, type 2 unknown Detail
Pathogenic 2021-12-07 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Levy-Hollister syndrome,Germ cell tumor of testis,achondroplasia,hypochondroplasia,Malignant tumor of urinary bladder,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Crouzon syndrome-acanthosis nigricans syndrome,cervical cancer,Muenke Syndrome,Thanatophoric dysplasia, type 2 unknown Detail
Pathogenic 2021-12-07 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Levy-Hollister syndrome,Germ cell tumor of testis,achondroplasia,hypochondroplasia,Malignant tumor of urinary bladder,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Crouzon syndrome-acanthosis nigricans syndrome,cervical cancer,Muenke Syndrome,Thanatophoric dysplasia, type 2 unknown Detail
Pathogenic 2021-12-07 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Levy-Hollister syndrome,Germ cell tumor of testis,achondroplasia,hypochondroplasia,Malignant tumor of urinary bladder,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Crouzon syndrome-acanthosis nigricans syndrome,cervical cancer,Muenke Syndrome,Thanatophoric dysplasia, type 2 unknown Detail
Pathogenic 2021-12-07 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Levy-Hollister syndrome,Germ cell tumor of testis,achondroplasia,hypochondroplasia,Malignant tumor of urinary bladder,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Crouzon syndrome-acanthosis nigricans syndrome,cervical cancer,Muenke Syndrome,Thanatophoric dysplasia, type 2 unknown Detail
Pathogenic 2021-12-07 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Levy-Hollister syndrome,Germ cell tumor of testis,achondroplasia,hypochondroplasia,Malignant tumor of urinary bladder,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Crouzon syndrome-acanthosis nigricans syndrome,cervical cancer,Muenke Syndrome,Thanatophoric dysplasia, type 2 unknown Detail
Pathogenic 2021-12-07 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Levy-Hollister syndrome,Germ cell tumor of testis,achondroplasia,hypochondroplasia,Malignant tumor of urinary bladder,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Crouzon syndrome-acanthosis nigricans syndrome,cervical cancer,Muenke Syndrome,Thanatophoric dysplasia, type 2 unknown Detail
Pathogenic 2021-12-07 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Levy-Hollister syndrome,Germ cell tumor of testis,achondroplasia,hypochondroplasia,Malignant tumor of urinary bladder,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Crouzon syndrome-acanthosis nigricans syndrome,cervical cancer,Muenke Syndrome,Thanatophoric dysplasia, type 2 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.457 THANATOPHORIC DYSPLASIA, TYPE I (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg) AND Thanatophoric dysplasia type 1 ClinVar Detail
NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg) AND not provided ClinVar Detail
NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg) AND multiple conditions ClinVar Detail
NA 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
rs121913101 dbSNP
Genome
hg38
Position
chr4:1,807,260-1,807,260
Variant Type
snv
Reference Allele
T
Alternative Allele
A
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