chr10:121517379:A>G Detail (hg38) (FGFR2)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr10:123,276,893-123,276,893 View the variant detail on this assembly version.
hg38	chr10:121,517,379-121,517,379

HGVS

FGFR2

Type	Transcript	Protein
RefSeq	NM_001144916.1:c.679T>C	NP_001138388.1:p.Cys227Arg
	NM_001144918.1:c.679T>C	NP_001138390.1:p.Cys227Arg
	NM_001144915.1:c.757T>C	NP_001138387.1:p.Cys253Arg
	NM_000141.4:c.1024T>C	NP_000132.3:p.Cys342Arg
	NM_001144919.1:c.820+1303T>C
	NM_001144913.1:c.1087+1303T>C
	NM_001144917.1:c.939+2600T>C
	NM_001144914.1:c.749-2060T>C
	NM_022970.3:c.1087+1303T>C
	NM_001320654.1:c.340T>C	NP_001307583.1:p.Cys114Arg
	NM_001320658.1:c.757T>C	NP_001307587.1:p.Cys253Arg
	NM_023029.2:c.757T>C	NP_075418.1:p.Cys253Arg
Ensemble	ENST00000346997.6:c.1024T>C	ENST00000346997.6:p.Cys342Arg
	ENST00000351936.11:c.1024T>C	ENST00000351936.11:p.Cys342Arg
	ENST00000356226.8:c.679T>C	ENST00000356226.8:p.Cys227Arg
	ENST00000357555.9:c.757T>C	ENST00000357555.9:p.Cys253Arg
	ENST00000358487.10:c.1024T>C	ENST00000358487.10:p.Cys342Arg
	ENST00000360144.7:c.820+1303T>C
	ENST00000369056.5:c.1087+1303T>C
	ENST00000369059.5:c.742+1303T>C
	ENST00000369060.8:c.939+2600T>C
	ENST00000369061.8:c.749-2060T>C
	ENST00000457416.7:c.1087+1303T>C
	ENST00000478859.5:c.340T>C	ENST00000478859.5:p.Cys114Arg
	ENST00000613048.4:c.757T>C	ENST00000613048.4:p.Cys253Arg
	ENST00000638709.2:c.-147T>C
	ENST00000682550.1:c.679T>C	ENST00000682550.1:p.Cys227Arg
	ENST00000682772.1:c.-147T>C
	ENST00000683211.1:c.1024T>C	ENST00000683211.1:p.Cys342Arg
	ENST00000684153.1:c.679T>C	ENST00000684153.1:p.Cys227Arg

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	2000-01-01	no assertion criteria provided	Crouzon syndrome	germline	Detail
Pathogenic	2019-08-27	criteria provided, multiple submitters, no conflicts	Pfeiffer syndrome	germline	Detail
Pathogenic	2000-01-01	no assertion criteria provided	Jackson-Weiss syndrome	germline	Detail
Pathogenic		criteria provided, single submitter	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	de novo germline	Detail
Pathogenic	2024-01-18	criteria provided, multiple submitters, no conflicts	FGFR2-related craniosynostosis	germline	Detail
Pathogenic	2022-02-02	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
0.332	Pfeiffer syndrome	We analyzed cell proliferation and differentiation in osteoblasts obtained from ...	BeFree	10329600	Detail
0.332	Craniofacial dysostosis type 1	The C342R mutation in FGFR2 causes Crouzon syndrome with elbow deformity.	BeFree	25759925	Detail
0.010	ACROCEPHALOPOLYSYNDACTYLY TYPE IV	We analyzed cell proliferation and differentiation in osteoblasts obtained from ...	BeFree	10329600	Detail
0.481	Jackson-Weiss syndrome	NA	CLINVAR		Detail
0.362	Antley-Bixler Syndrome, Autosomal Dominant	NA	CLINVAR		Detail
0.255	Craniofacial Dysostosis	The C342R mutation in FGFR2 causes Crouzon syndrome with elbow deformity.	BeFree	25759925	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg) AND Crouzon syndrome	ClinVar	Detail
NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg) AND Pfeiffer syndrome	ClinVar	Detail
NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg) AND Jackson-Weiss syndrome	ClinVar	Detail
NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg) AND Antley-Bixler syndrome without genital anomalies or d...	ClinVar	Detail
NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg) AND FGFR2-related craniosynostosis	ClinVar	Detail
NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
We analyzed cell proliferation and differentiation in osteoblasts obtained from patients with three ...	DisGeNET	Detail
The C342R mutation in FGFR2 causes Crouzon syndrome with elbow deformity.	DisGeNET	Detail
We analyzed cell proliferation and differentiation in osteoblasts obtained from patients with three ...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
The C342R mutation in FGFR2 causes Crouzon syndrome with elbow deformity.	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: rs121918488 dbSNP
Genome: hg38
Position: chr10:121,517,379-121,517,379
Variant Type: snv
Reference Allele: A
Alternative Allele: G

Genome browser