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

Go to:

Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

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

FGFR3

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
Ensemble	ENST00000340107.9:c.1117A>T	ENST00000340107.9:p.Ser373Cys
	ENST00000352904.6:c.931-459A>T
	ENST00000412135.7:c.1099A>T	ENST00000412135.7:p.Ser367Cys
	ENST00000440486.8:c.1111A>T	ENST00000440486.8:p.Ser371Cys
	ENST00000481110.7:c.1111A>T	ENST00000481110.7: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

FGFR3

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

Descrption	Source	Links
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