chr10:121517385:A>G 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	chr10:123,276,899-123,276,899 View the variant detail on this assembly version.
hg38	chr10:121,517,385-121,517,385

HGVS

FGFR2

Type	Transcript	Protein
RefSeq	NM_001144916.1:c.673T>C	NP_001138388.1:p.Tyr225His
	NM_001144918.1:c.673T>C	NP_001138390.1:p.Tyr225His
	NM_001144915.1:c.751T>C	NP_001138387.1:p.Tyr251His
	NM_000141.4:c.1018T>C	NP_000132.3:p.Tyr340His
	NM_001144919.1:c.820+1297T>C
	NM_001144913.1:c.1087+1297T>C
	NM_001144917.1:c.939+2594T>C
	NM_001144914.1:c.749-2066T>C
	NM_022970.3:c.1087+1297T>C
	NM_001320654.1:c.334T>C	NP_001307583.1:p.Tyr112His
	NM_001320658.1:c.751T>C	NP_001307587.1:p.Tyr251His
	NM_023029.2:c.751T>C	NP_075418.1:p.Tyr251His
Ensemble	ENST00000346997.6:c.1018T>C	ENST00000346997.6:p.Tyr340His
	ENST00000351936.11:c.1018T>C	ENST00000351936.11:p.Tyr340His
	ENST00000356226.8:c.673T>C	ENST00000356226.8:p.Tyr225His
	ENST00000357555.9:c.751T>C	ENST00000357555.9:p.Tyr251His
	ENST00000358487.10:c.1018T>C	ENST00000358487.10:p.Tyr340His
	ENST00000360144.7:c.820+1297T>C
	ENST00000369056.5:c.1087+1297T>C
	ENST00000369059.5:c.742+1297T>C
	ENST00000369060.8:c.939+2594T>C
	ENST00000369061.8:c.749-2066T>C
	ENST00000457416.7:c.1087+1297T>C
	ENST00000478859.5:c.334T>C	ENST00000478859.5:p.Tyr112His
	ENST00000613048.4:c.751T>C	ENST00000613048.4:p.Tyr251His
	ENST00000638709.2:c.-153T>C
	ENST00000682550.1:c.673T>C	ENST00000682550.1:p.Tyr225His
	ENST00000682772.1:c.-153T>C
	ENST00000683211.1:c.1018T>C	ENST00000683211.1:p.Tyr340His
	ENST00000684153.1:c.673T>C	ENST00000684153.1:p.Tyr225His

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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
Pathogenic	2021-02-17	criteria provided, multiple submitters, no conflicts	Crouzon syndrome	germline unknown	Detail
Pathogenic	2023-02-14	criteria provided, single submitter	FGFR2-related craniosynostosis	germline	Detail
Pathogenic		no assertion criteria provided	not provided	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.1018T>C (p.Tyr340His) AND Crouzon syndrome	ClinVar	Detail
NM_000141.5(FGFR2):c.1018T>C (p.Tyr340His) AND FGFR2-related craniosynostosis	ClinVar	Detail
NM_000141.5(FGFR2):c.1018T>C (p.Tyr340His) AND not provided	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: rs121918489 dbSNP
Genome: hg38
Position: chr10:121,517,385-121,517,385
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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