chr10:121520160:GGC>AAG Detail (hg38) (FGFR2)

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

Information

Genome

Assembly	Position
hg19	chr10:123,279,674-123,279,676 View the variant detail on this assembly version.
hg38	chr10:121,520,160-121,520,162

HGVS

FGFR2

Type	Transcript	Protein
RefSeq	NM_001144916.1:c.411_413delinsCTT	NP_001138388.1:p.Pro138Phe
	NM_001144918.1:c.411_413delinsCTT	NP_001138390.1:p.Pro138Phe
	NM_001144915.1:c.489_491delinsCTT	NP_001138387.1:p.Pro164Phe
	NM_000141.4:c.756_758delinsCTT	NP_000132.3:p.Pro253Phe
	NM_001144919.1:c.489_491delinsCTT	NP_001138391.1:p.Pro164Phe
	NM_001144913.1:c.756_758delinsCTT	NP_001138385.1:p.Pro253Phe
	NM_001144917.1:c.756_758delinsCTT	NP_001138389.1:p.Pro253Phe
	NM_001144914.1:c.749-4843_749-4841delinsCTT
	NM_022970.3:c.756_758delinsCTT	NP_075259.4:p.Pro253Phe
	NM_001320654.1:c.72_74delinsCTT	NP_001307583.1:p.Pro25Phe
	NM_001320658.1:c.489_491delinsCTT	NP_001307587.1:p.Pro164Phe
	NM_023029.2:c.489_491delinsCTT	NP_075418.1:p.Pro164Phe
Ensemble	ENST00000346997.6:c.756_758delinsCTT	ENST00000346997.6:p.Pro253Phe
	ENST00000351936.11:c.756_758delinsCTT	ENST00000351936.11:p.Pro253Phe
	ENST00000356226.8:c.411_413delinsCTT	ENST00000356226.8:p.Pro138Phe
	ENST00000357555.9:c.489_491delinsCTT	ENST00000357555.9:p.Pro164Phe
	ENST00000358487.10:c.756_758delinsCTT	ENST00000358487.10:p.Pro253Phe
	ENST00000360144.7:c.489_491delinsCTT	ENST00000360144.7:p.Pro164Phe
	ENST00000369056.5:c.756_758delinsCTT	ENST00000369056.5:p.Pro253Phe
	ENST00000369059.5:c.411_413delinsCTT	ENST00000369059.5:p.Pro138Phe
	ENST00000369060.8:c.756_758delinsCTT	ENST00000369060.8:p.Pro253Phe
	ENST00000369061.8:c.749-4843_749-4841delinsCTT
	ENST00000457416.7:c.756_758delinsCTT	ENST00000457416.7:p.Pro253Phe
	ENST00000478859.5:c.72_74delinsCTT	ENST00000478859.5:p.Pro25Phe
	ENST00000613048.4:c.489_491delinsCTT	ENST00000613048.4:p.Pro164Phe
	ENST00000638709.2:c.-413_-415delinsCTT
	ENST00000682550.1:c.411_413delinsCTT	ENST00000682550.1:p.Pro138Phe
	ENST00000682772.1:c.-413_-415delinsCTT
	ENST00000683211.1:c.756_758delinsCTT	ENST00000683211.1:p.Pro253Phe
	ENST00000684153.1:c.411_413delinsCTT	ENST00000684153.1:p.Pro138Phe

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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
Pathogenic		no assertion criteria provided	Acrocephalosyndactyly type I	germline maternal	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.756_758delinsCTT (p.Pro253Phe) 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: rs387907372 dbSNP
Genome: hg38
Position: chr10:121,520,160-121,520,162
Variant Type: snv
Reference Allele: GGC
Alternative Allele: AAG

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