chr10:121517394:C>T Detail (hg38) (FGFR2)

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

Genome

Assembly	Position
hg19	chr10:123,276,908-123,276,908 View the variant detail on this assembly version.
hg38	chr10:121,517,394-121,517,394

HGVS

FGFR2

Type	Transcript	Protein
RefSeq	NM_001144916.1:c.664G>A	NP_001138388.1:p.Ala222Thr
	NM_001144918.1:c.664G>A	NP_001138390.1:p.Ala222Thr
	NM_001144915.1:c.742G>A	NP_001138387.1:p.Ala248Thr
	NM_000141.4:c.1009G>A	NP_000132.3:p.Ala337Thr
	NM_001144919.1:c.820+1288G>A
	NM_001144913.1:c.1087+1288G>A
	NM_001144917.1:c.939+2585G>A
	NM_001144914.1:c.749-2075G>A
	NM_022970.3:c.1087+1288G>A
	NM_001320654.1:c.325G>A	NP_001307583.1:p.Ala109Thr
	NM_001320658.1:c.742G>A	NP_001307587.1:p.Ala248Thr
	NM_023029.2:c.742G>A	NP_075418.1:p.Ala248Thr
Ensemble	ENST00000346997.6:c.1009G>A	ENST00000346997.6:p.Ala337Thr
	ENST00000351936.11:c.1009G>A	ENST00000351936.11:p.Ala337Thr
	ENST00000356226.8:c.664G>A	ENST00000356226.8:p.Ala222Thr
	ENST00000357555.9:c.742G>A	ENST00000357555.9:p.Ala248Thr
	ENST00000358487.10:c.1009G>A	ENST00000358487.10:p.Ala337Thr
	ENST00000360144.7:c.820+1288G>A
	ENST00000369056.5:c.1087+1288G>A
	ENST00000369059.5:c.742+1288G>A
	ENST00000369060.8:c.939+2585G>A
	ENST00000369061.8:c.749-2075G>A
	ENST00000457416.7:c.1087+1288G>A
	ENST00000478859.5:c.325G>A	ENST00000478859.5:p.Ala109Thr
	ENST00000613048.4:c.742G>A	ENST00000613048.4:p.Ala248Thr
	ENST00000638709.2:c.-162G>A
	ENST00000682550.1:c.664G>A	ENST00000682550.1:p.Ala222Thr
	ENST00000682772.1:c.-162G>A
	ENST00000683211.1:c.1009G>A	ENST00000683211.1:p.Ala337Thr
	ENST00000684153.1:c.664G>A	ENST00000684153.1:p.Ala222Thr

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
Show details

Links

FGFR2

Type	Database	ID	Link
Gene	MIM	176943	OMIM
	HGNC	3689	HGNC
	Ensembl	ENSG00000066468	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	1995-02-01	no assertion criteria provided	Variant of unknown significance	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.255	Craniofacial Dysostosis	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000141.5(FGFR2):c.1009G>A (p.Ala337Thr) AND Variant of unknown significance	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: rs387906676 dbSNP
Genome: hg38
Position: chr10:121,517,394-121,517,394
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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