chr4:1807889:A>C Detail (hg19) (FGFR3)

Information

Genome

Assembly Position
hg19 chr4:1,807,889-1,807,889
hg38 chr4:1,806,162-1,806,162 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001163213.1:c.1954A>C NP_001156685.1:p.Lys652Gln
NM_022965.3:c.1936A>C NP_075254.1:p.Lys646Gln
NM_000142.4:c.1948A>C NP_000133.1:p.Lys650Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

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 COSM726 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-06-02 criteria provided, single submitter hypochondroplasia unknown germline Detail
Pathogenic 2007-12-15 no assertion criteria provided Malignant tumor of urinary bladder somatic Detail
Likely pathogenic 2016-05-13 no assertion criteria provided acanthosis nigricans somatic Detail
Likely pathogenic 2015-07-14 no assertion criteria provided Urinary bladder carcinoma somatic Detail
Pathogenic 2023-08-09 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
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
<0.001 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
0.457 THANATOPHORIC DYSPLASIA, TYPE I (disorder) Two missense mutations in this codon are known to result in strong constitutive ... BeFree 11055896 Detail
0.269 multiple myeloma NA CLINVAR Detail
0.275 Malignant neoplasm of urinary bladder NA CLINVAR Detail
0.269 multiple myeloma Deregulated FGFR3 mutants in multiple myeloma cell lines with t(4;14): comparati... BeFree 11429702 Detail
0.621 achondroplasia Here we compared the ubiquitylation of either wild type or a K508A 'kinase-dead'... BeFree 12297284 Detail
0.150 thanatophoric dysplasia Here we compared the ubiquitylation of either wild type or a K508A 'kinase-dead'... BeFree 12297284 Detail
0.457 THANATOPHORIC DYSPLASIA, TYPE I (disorder) Here we compared the ubiquitylation of either wild type or a K508A 'kinase-dead'... BeFree 12297284 Detail
0.442 Thanatophoric dysplasia, type 2 Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a preg... BeFree 24075385 Detail
<0.001 Thanatophoric dysplasia, type 2 The K650E gain-of-function mutation in the tyrosine kinase domain of FGF recepto... BeFree 23972473 Detail
0.495 Hypochondroplasia (disorder) Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in F... BeFree 21510009 Detail
0.120 seminoma Screening of 30 spermatocytic seminomas for oncogenic mutations in 17 genes iden... BeFree 19855393 Detail
0.457 THANATOPHORIC DYSPLASIA, TYPE I (disorder) Screening of 30 spermatocytic seminomas for oncogenic mutations in 17 genes iden... BeFree 19855393 Detail
0.120 Spermatocytic seminoma NA CLINVAR Detail
0.442 Thanatophoric dysplasia, type 2 The K650E gain-of-function mutation in the tyrosine kinase domain of FGF recepto... BeFree 23972473 Detail
0.442 Thanatophoric dysplasia, type 2 NA CLINVAR Detail
<0.001 THANATOPHORIC DYSPLASIA, TYPE I (disorder) Screening of 30 spermatocytic seminomas for oncogenic mutations in 17 genes iden... BeFree 19855393 Detail
<0.001 thanatophoric dysplasia Screening of 30 spermatocytic seminomas for oncogenic mutations in 17 genes iden... BeFree 19855393 Detail
0.014 acanthosis nigricans Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutati... BeFree 18000903 Detail
<0.001 Dwarfism The K650E gain-of-function mutation in the tyrosine kinase domain of FGF recepto... BeFree 23972473 Detail
0.003 Osteochondrodysplasias Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutati... BeFree 18000903 Detail
<0.001 mucopolysaccharidosis IV Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutati... BeFree 18000903 Detail
0.150 thanatophoric dysplasia Screening of 30 spermatocytic seminomas for oncogenic mutations in 17 genes iden... BeFree 19855393 Detail
0.007 Carcinogenesis The K650E gain-of-function mutation in the tyrosine kinase domain of FGF recepto... BeFree 23972473 Detail
0.001 Disorder of skeletal system The K650E substitution in the fibroblast growth factor receptor 3 (FGFR3) causes... BeFree 12624096 Detail
0.005 Carcinogenesis The K650E gain-of-function mutation in the tyrosine kinase domain of FGF recepto... BeFree 23972473 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000142.5(FGFR3):c.1948A>C (p.Lys650Gln) AND Hypochondroplasia ClinVar Detail
NM_000142.5(FGFR3):c.1948A>C (p.Lys650Gln) AND Malignant tumor of urinary bladder ClinVar Detail
NM_000142.5(FGFR3):c.1948A>C (p.Lys650Gln) AND Acanthosis nigricans ClinVar Detail
NM_000142.5(FGFR3):c.1948A>C (p.Lys650Gln) AND Urinary bladder carcinoma ClinVar Detail
NM_000142.5(FGFR3):c.1948A>C (p.Lys650Gln) AND not provided ClinVar 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
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
Two missense mutations in this codon are known to result in strong constitutive activation of the FG... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Deregulated FGFR3 mutants in multiple myeloma cell lines with t(4;14): comparative analysis of Y373C... DisGeNET Detail
Here we compared the ubiquitylation of either wild type or a K508A 'kinase-dead' mutant of fibroblas... DisGeNET Detail
Here we compared the ubiquitylation of either wild type or a K508A 'kinase-dead' mutant of fibroblas... DisGeNET Detail
Here we compared the ubiquitylation of either wild type or a K508A 'kinase-dead' mutant of fibroblas... DisGeNET Detail
Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with ... DisGeNET Detail
The K650E gain-of-function mutation in the tyrosine kinase domain of FGF receptor 3 (FGFR3) causes T... DisGeNET Detail
Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3. DisGeNET Detail
Screening of 30 spermatocytic seminomas for oncogenic mutations in 17 genes identified 2 mutations i... DisGeNET Detail
Screening of 30 spermatocytic seminomas for oncogenic mutations in 17 genes identified 2 mutations i... DisGeNET Detail
NA DisGeNET Detail
The K650E gain-of-function mutation in the tyrosine kinase domain of FGF receptor 3 (FGFR3) causes T... DisGeNET Detail
NA DisGeNET Detail
Screening of 30 spermatocytic seminomas for oncogenic mutations in 17 genes identified 2 mutations i... DisGeNET Detail
Screening of 30 spermatocytic seminomas for oncogenic mutations in 17 genes identified 2 mutations i... DisGeNET Detail
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene... DisGeNET Detail
The K650E gain-of-function mutation in the tyrosine kinase domain of FGF receptor 3 (FGFR3) causes T... DisGeNET Detail
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene... DisGeNET Detail
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene... DisGeNET Detail
Screening of 30 spermatocytic seminomas for oncogenic mutations in 17 genes identified 2 mutations i... DisGeNET Detail
The K650E gain-of-function mutation in the tyrosine kinase domain of FGF receptor 3 (FGFR3) causes T... DisGeNET Detail
The K650E substitution in the fibroblast growth factor receptor 3 (FGFR3) causes constitutive tyrosi... DisGeNET Detail
The K650E gain-of-function mutation in the tyrosine kinase domain of FGF receptor 3 (FGFR3) causes T... 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
rs78311289 dbSNP
Genome
hg19
Position
chr4:1,807,889-1,807,889
Variant Type
snv
Reference Allele
A
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8580
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
118728
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.422613031466883E-6
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