chr10:123279564:A>G 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	chr10:123,279,564-123,279,564
hg38	chr10:121,520,050-121,520,050 View the variant detail on this assembly version.

HGVS

FGFR2

Type	Transcript	Protein
RefSeq	NM_001144916.1:c.523T>C	NP_001138388.1:p.Trp175Arg
	NM_001144918.1:c.523T>C	NP_001138390.1:p.Trp175Arg
	NM_022970.3:c.868T>C	NP_075259.4:p.Trp290Arg
	NM_001144915.1:c.601T>C	NP_001138387.1:p.Trp201Arg
	NM_001144914.1:c.749-4731T>C
	NM_001144913.1:c.868T>C	NP_001138385.1:p.Trp290Arg
	NM_000141.4:c.868T>C	NP_000132.3:p.Trp290Arg
	NM_001144917.1:c.868T>C	NP_001138389.1:p.Trp290Arg
	NM_001144919.1:c.601T>C	NP_001138391.1:p.Trp201Arg
	NM_001320658.1:c.601T>C	NP_001307587.1:p.Trp201Arg
	NM_023029.2:c.601T>C	NP_075418.1:p.Trp201Arg
	NM_001320654.1:c.184T>C	NP_001307583.1:p.Trp62Arg
Ensemble	ENST00000682550.1:c.523T>C	ENST00000682550.1:p.Trp175Arg
	ENST00000684153.1:c.523T>C	ENST00000684153.1:p.Trp175Arg
	ENST00000356226.8:c.523T>C	ENST00000356226.8:p.Trp175Arg
	ENST00000457416.7:c.868T>C	ENST00000457416.7:p.Trp290Arg
	ENST00000357555.9:c.601T>C	ENST00000357555.9:p.Trp201Arg
	ENST00000683211.1:c.868T>C	ENST00000683211.1:p.Trp290Arg
	ENST00000682772.1:c.-303T>C
	ENST00000369061.8:c.749-4731T>C
	ENST00000346997.6:c.868T>C	ENST00000346997.6:p.Trp290Arg
	ENST00000369056.5:c.868T>C	ENST00000369056.5:p.Trp290Arg
	ENST00000358487.10:c.868T>C	ENST00000358487.10:p.Trp290Arg
	ENST00000369060.8:c.868T>C	ENST00000369060.8:p.Trp290Arg
	ENST00000351936.11:c.868T>C	ENST00000351936.11:p.Trp290Arg
	ENST00000369059.5:c.523T>C	ENST00000369059.5:p.Trp175Arg
	ENST00000360144.7:c.601T>C	ENST00000360144.7:p.Trp201Arg
	ENST00000613048.4:c.601T>C	ENST00000613048.4:p.Trp201Arg
	ENST00000478859.5:c.184T>C	ENST00000478859.5:p.Trp62Arg
	ENST00000638709.2:c.-303T>C

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	COSM6969485	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2019-06-03	criteria provided, multiple submitters, no conflicts	Crouzon syndrome	germline	Detail
Pathogenic	2023-06-16	criteria provided, single submitter	FGFR2-related craniosynostosis	germline	Detail
Pathogenic	2022-10-20	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.255	Craniofacial Dysostosis	NA	CLINVAR		Detail
0.255	Craniofacial Dysostosis	The Fgfr2 W290R mouse model of Crouzon syndrome.	BeFree	22872266	Detail
0.160	craniosynostosis	Several of the defects observed in the Fgfr2 (W290R) homozygous mouse mutant are...	BeFree	22872266	Detail
0.332	Craniofacial dysostosis type 1	The Fgfr2 W290R mouse model of Crouzon syndrome.	BeFree	22872266	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000141.5(FGFR2):c.868T>C (p.Trp290Arg) AND Crouzon syndrome	ClinVar	Detail
NM_000141.5(FGFR2):c.868T>C (p.Trp290Arg) AND FGFR2-related craniosynostosis	ClinVar	Detail
NM_000141.5(FGFR2):c.868T>C (p.Trp290Arg) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
The Fgfr2 W290R mouse model of Crouzon syndrome.	DisGeNET	Detail
Several of the defects observed in the Fgfr2 (W290R) homozygous mouse mutant are attributable to a l...	DisGeNET	Detail
The Fgfr2 W290R mouse model of Crouzon syndrome.	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: rs121918501 dbSNP
Genome: hg19
Position: chr10:123,279,564-123,279,564
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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