chr4:1807803:G>A Detail (hg19) (FGFR3)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr4:1,807,803-1,807,803
hg38	chr4:1,806,076-1,806,076 View the variant detail on this assembly version.

HGVS

FGFR3

Type	Transcript	Protein
RefSeq	NM_001163213.1:c.1868G>A	NP_001156685.1:p.Arg623His
	NM_022965.3:c.1850G>A	NP_075254.1:p.Arg617His
	NM_000142.4:c.1862G>A	NP_000133.1:p.Arg621His
Ensemble	ENST00000481110.7:c.1865G>A	ENST00000481110.7:p.Arg622His
	ENST00000340107.9:c.1868G>A	ENST00000340107.9:p.Arg623His
	ENST00000352904.6:c.1526G>A	ENST00000352904.6:p.Arg509His
	ENST00000412135.7:c.1850G>A	ENST00000412135.7:p.Arg617His
	ENST00000440486.8:c.1862G>A	ENST00000440486.8:p.Arg621His

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

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	COSM1670849	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2006-11-01	no assertion criteria provided	camptodactyly-tall stature-scoliosis-hearing loss syndrome	germline	Detail
Pathogenic	2024-01-11	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.003	melanoma	ARHGEF17 showed a G1865A mutation leading to W622X in a cell line derived from a...	BeFree	18677770	Detail
0.003	melanoma	ARHGEF17 showed a G1865A mutation leading to W622X in a cell line derived from a...	BeFree	18677770	Detail
0.003	melanoma	ARHGEF17 showed a G1865A mutation leading to W622X in a cell line derived from a...	BeFree	18677770	Detail
0.480	CATSHL syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000142.5(FGFR3):c.1862G>A (p.Arg621His) AND Camptodactyly-tall stature-scoliosis-hearing loss syn...	ClinVar	Detail
NM_000142.5(FGFR3):c.1862G>A (p.Arg621His) AND not provided	ClinVar	Detail
ARHGEF17 showed a G1865A mutation leading to W622X in a cell line derived from a mucosal melanoma; i...	DisGeNET	Detail
ARHGEF17 showed a G1865A mutation leading to W622X in a cell line derived from a mucosal melanoma; i...	DisGeNET	Detail
ARHGEF17 showed a G1865A mutation leading to W622X in a cell line derived from a mucosal melanoma; i...	DisGeNET	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: rs121913113 dbSNP
Genome: hg19
Position: chr4:1,807,803-1,807,803
Variant Type: snv
Reference Allele: G
Alternative Allele: A

Genome browser