chr4:1804365:A>T Detail (hg38) (FGFR3)

Information

Genome

Assembly Position
hg19 chr4:1,806,092-1,806,092 View the variant detail on this assembly version.
hg38 chr4:1,804,365-1,804,365

HGVS

Type Transcript Protein
RefSeq NM_001163213.1:c.1117A>T NP_001156685.1:p.Ser373Cys
NM_022965.3:c.1099A>T NP_075254.1:p.Ser367Cys
NM_000142.4:c.1111A>T NP_000133.1:p.Ser371Cys
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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 COSM1742346 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic salivary gland neoplasms somatic MGS000044
(TMGS000097)
Kohei Miyazono Tokyo University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1995-03-01 no assertion criteria provided Thanatophoric dysplasia type 1 germline unknown Detail
Likely pathogenic 2015-07-14 no assertion criteria provided Urinary bladder carcinoma somatic Detail
Likely pathogenic 2016-05-13 no assertion criteria provided carcinoma somatic Detail
Pathogenic 2019-04-11 criteria provided, single submitter not specified germline Detail
Pathogenic 2022-05-10 criteria provided, single submitter not provided germline Detail
Uncertain significance 2024-03-25 criteria provided, single submitter achondroplasia germline 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.1111A>T (p.Ser371Cys) AND Thanatophoric dysplasia type 1 ClinVar Detail
NM_000142.5(FGFR3):c.1111A>T (p.Ser371Cys) AND Urinary bladder carcinoma ClinVar Detail
NM_000142.5(FGFR3):c.1111A>T (p.Ser371Cys) AND Carcinoma ClinVar Detail
NM_000142.5(FGFR3):c.1111A>T (p.Ser371Cys) AND not specified ClinVar Detail
NM_000142.5(FGFR3):c.1111A>T (p.Ser371Cys) AND not provided ClinVar Detail
NM_000142.5(FGFR3):c.1111A>T (p.Ser371Cys) AND Achondroplasia 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
rs121913484 dbSNP
Genome
hg38
Position
chr4:1,804,365-1,804,365
Variant Type
snv
Reference Allele
A
Alternative Allele
T
Genome browser