chr4:1806650:G>A Detail (hg38) (FGFR3)

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

Genome

Assembly	Position
hg19	chr4:1,808,377-1,808,377 View the variant detail on this assembly version.
hg38	chr4:1,806,650-1,806,650

HGVS

FGFR3

Type	Transcript	Protein
RefSeq	NM_001163213.1:c.2141G>A	NP_001156685.1:p.Arg714His
	NM_022965.3:c.2123G>A	NP_075254.1:p.Arg708His
	NM_000142.4:c.2135G>A	NP_000133.1:p.Arg712His
Ensemble	ENST00000340107.9:c.2141G>A	ENST00000340107.9:p.Arg714His
	ENST00000352904.6:c.1799G>A	ENST00000352904.6:p.Arg600His
	ENST00000412135.7:c.2123G>A	ENST00000412135.7:p.Arg708His
	ENST00000440486.8:c.2135G>A	ENST00000440486.8:p.Arg712His
	ENST00000481110.7:c.2067G>A	ENST00000481110.7:p.Pro689=

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	not provided
Review star
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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	COSM3337771	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
not provided		no assertion provided	sarcoma	somatic	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000142.5(FGFR3):c.2135G>A (p.Arg712His) AND Sarcoma	ClinVar	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: rs104886024 dbSNP
Genome: hg38
Position: chr4:1,806,650-1,806,650
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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