chr10:123279676:CG>AA Detail (hg19) (FGFR2)

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

Information

Genome

Assembly	Position
hg19	chr10:123,279,676-123,279,677
hg38	chr10:121,520,162-121,520,163 View the variant detail on this assembly version.

HGVS

FGFR2

Type	Transcript	Protein
RefSeq	NM_001144919.1:c.488_489delinsTT	NP_001138391.1:p.Ser163Phe
	NM_001144917.1:c.755_756delinsTT	NP_001138389.1:p.Ser252Phe
	NM_000141.4:c.755_756delinsTT	NP_000132.3:p.Ser252Phe
	NM_001144913.1:c.755_756delinsTT	NP_001138385.1:p.Ser252Phe
	NM_001320654.1:c.71_72delinsTT	NP_001307583.1:p.Ser24Phe
	NM_001320658.1:c.488_489delinsTT	NP_001307587.1:p.Ser163Phe
	NM_023029.2:c.488_489delinsTT	NP_075418.1:p.Ser163Phe
	NM_022970.3:c.755_756delinsTT	NP_075259.4:p.Ser252Phe
	NM_001144916.1:c.410_411delinsTT	NP_001138388.1:p.Ser137Phe
	NM_001144918.1:c.410_411delinsTT	NP_001138390.1:p.Ser137Phe
	NM_001144914.1:c.749-4844_749-4843delinsTT
	NM_001144915.1:c.488_489delinsTT	NP_001138387.1:p.Ser163Phe
Ensemble	ENST00000360144.7:c.488_489delinsTT	ENST00000360144.7:p.Ser163Phe
	ENST00000369060.8:c.755_756delinsTT	ENST00000369060.8:p.Ser252Phe
	ENST00000358487.10:c.755_756delinsTT	ENST00000358487.10:p.Ser252Phe
	ENST00000351936.11:c.755_756delinsTT	ENST00000351936.11:p.Ser252Phe
	ENST00000369059.5:c.410_411delinsTT	ENST00000369059.5:p.Ser137Phe
	ENST00000369056.5:c.755_756delinsTT	ENST00000369056.5:p.Ser252Phe
	ENST00000638709.2:c.-415_-416delinsTT
	ENST00000478859.5:c.71_72delinsTT	ENST00000478859.5:p.Ser24Phe
	ENST00000613048.4:c.488_489delinsTT	ENST00000613048.4:p.Ser163Phe
	ENST00000682550.1:c.410_411delinsTT	ENST00000682550.1:p.Ser137Phe
	ENST00000457416.7:c.755_756delinsTT	ENST00000457416.7:p.Ser252Phe
	ENST00000684153.1:c.410_411delinsTT	ENST00000684153.1:p.Ser137Phe
	ENST00000356226.8:c.410_411delinsTT	ENST00000356226.8:p.Ser137Phe
	ENST00000346997.6:c.755_756delinsTT	ENST00000346997.6:p.Ser252Phe
	ENST00000369061.8:c.749-4844_749-4843delinsTT
	ENST00000682772.1:c.-415_-416delinsTT
	ENST00000683211.1:c.755_756delinsTT	ENST00000683211.1:p.Ser252Phe
	ENST00000357555.9:c.488_489delinsTT	ENST00000357555.9:p.Ser163Phe

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
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
Likely pathogenic	2016-09-17	criteria provided, single submitter	Acrocephalosyndactyly type I	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.455	Apert syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000141.5(FGFR2):c.755_756delinsTT (p.Ser252Phe) AND Acrocephalosyndactyly type I	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: rs121918498 dbSNP
Genome: hg19
Position: chr10:123,279,676-123,279,677
Variant Type: snv
Reference Allele: CG
Alternative Allele: AA

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