chr10:123276886:G>C Detail (hg19) (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	chr10:123,276,886-123,276,886
hg38	chr10:121,517,372-121,517,372 View the variant detail on this assembly version.

HGVS

FGFR2

Type	Transcript	Protein
RefSeq	NM_022970.3:c.1087+1310C>G
	NM_001144916.1:c.686C>G	NP_001138388.1:p.Ala229Gly
	NM_001144918.1:c.686C>G	NP_001138390.1:p.Ala229Gly
	NM_001144914.1:c.749-2053C>G
	NM_001144915.1:c.764C>G	NP_001138387.1:p.Ala255Gly
	NM_001144919.1:c.820+1310C>G
	NM_000141.4:c.1031C>G	NP_000132.3:p.Ala344Gly
	NM_001144917.1:c.939+2607C>G
	NM_001144913.1:c.1087+1310C>G
	NM_001320654.1:c.347C>G	NP_001307583.1:p.Ala116Gly
	NM_001320658.1:c.764C>G	NP_001307587.1:p.Ala255Gly
	NM_023029.2:c.764C>G	NP_075418.1:p.Ala255Gly
Ensemble	ENST00000457416.7:c.1087+1310C>G
	ENST00000684153.1:c.686C>G	ENST00000684153.1:p.Ala229Gly
	ENST00000356226.8:c.686C>G	ENST00000356226.8:p.Ala229Gly
	ENST00000369061.8:c.749-2053C>G
	ENST00000346997.6:c.1031C>G	ENST00000346997.6:p.Ala344Gly
	ENST00000682772.1:c.-140C>G
	ENST00000357555.9:c.764C>G	ENST00000357555.9:p.Ala255Gly
	ENST00000683211.1:c.1031C>G	ENST00000683211.1:p.Ala344Gly
	ENST00000360144.7:c.820+1310C>G
	ENST00000358487.10:c.1031C>G	ENST00000358487.10:p.Ala344Gly
	ENST00000369060.8:c.939+2607C>G
	ENST00000351936.11:c.1031C>G	ENST00000351936.11:p.Ala344Gly
	ENST00000369059.5:c.742+1310C>G
	ENST00000369056.5:c.1087+1310C>G
	ENST00000638709.2:c.-140C>G
	ENST00000478859.5:c.347C>G	ENST00000478859.5:p.Ala116Gly
	ENST00000613048.4:c.764C>G	ENST00000613048.4:p.Ala255Gly
	ENST00000682550.1:c.686C>G	ENST00000682550.1:p.Ala229Gly

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	1995-08-01	no assertion criteria provided	Jackson-Weiss syndrome	germline	Detail
Pathogenic	1995-08-01	no assertion criteria provided	Crouzon syndrome	germline	Detail
Pathogenic	2023-03-17	criteria provided, single submitter	FGFR2-related craniosynostosis	germline	Detail
Pathogenic		criteria provided, single submitter	Pfeiffer syndrome	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.255	Craniofacial Dysostosis	NA	CLINVAR		Detail
0.481	Jackson-Weiss syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000141.5(FGFR2):c.1031C>G (p.Ala344Gly) AND Jackson-Weiss syndrome	ClinVar	Detail
NM_000141.5(FGFR2):c.1031C>G (p.Ala344Gly) AND Crouzon syndrome	ClinVar	Detail
NM_000141.5(FGFR2):c.1031C>G (p.Ala344Gly) AND FGFR2-related craniosynostosis	ClinVar	Detail
NM_000141.5(FGFR2):c.1031C>G (p.Ala344Gly) AND Pfeiffer syndrome	ClinVar	Detail
NA	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: rs121918492 dbSNP
Genome: hg19
Position: chr10:123,276,886-123,276,886
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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