chr10:123258105:T>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	chr10:123,258,105-123,258,105
hg38	chr10:121,498,591-121,498,591 View the variant detail on this assembly version.

HGVS

FGFR2

Type	Transcript	Protein
RefSeq	NM_022970.3:c.1579A>G	NP_075259.4:p.Lys527Glu
	NM_001144916.1:c.1225A>G	NP_001138388.1:p.Lys409Glu
	NM_001144918.1:c.1225A>G	NP_001138390.1:p.Lys409Glu
	NM_001144914.1:c.1240A>G	NP_001138386.1:p.Lys414Glu
	NM_001144915.1:c.1309A>G	NP_001138387.1:p.Lys437Glu
	NM_001144919.1:c.1312A>G	NP_001138391.1:p.Lys438Glu
	NM_000141.4:c.1576A>G	NP_000132.3:p.Lys526Glu
	NM_001144917.1:c.1228A>G	NP_001138389.1:p.Lys410Glu
	NM_001144913.1:c.1579A>G	NP_001138385.1:p.Lys527Glu
	NM_001320654.1:c.892A>G	NP_001307583.1:p.Lys298Glu
	NM_001320658.1:c.1309A>G	NP_001307587.1:p.Lys437Glu
	NM_023029.2:c.1309A>G	NP_075418.1:p.Lys437Glu
Ensemble	ENST00000457416.7:c.1579A>G	ENST00000457416.7:p.Lys527Glu
	ENST00000356226.8:c.1225A>G	ENST00000356226.8:p.Lys409Glu
	ENST00000684153.1:c.1225A>G	ENST00000684153.1:p.Lys409Glu
	ENST00000369061.8:c.1240A>G	ENST00000369061.8:p.Lys414Glu
	ENST00000346997.6:c.1570A>G	ENST00000346997.6:p.Lys524Glu
	ENST00000682772.1:c.400A>G	ENST00000682772.1:p.Lys134Glu
	ENST00000357555.9:c.1309A>G	ENST00000357555.9:p.Lys437Glu
	ENST00000683211.1:c.1570A>G	ENST00000683211.1:p.Lys524Glu
	ENST00000360144.7:c.1312A>G	ENST00000360144.7:p.Lys438Glu
	ENST00000369059.5:c.1234A>G	ENST00000369059.5:p.Lys412Glu
	ENST00000358487.10:c.1576A>G	ENST00000358487.10:p.Lys526Glu
	ENST00000369060.8:c.1228A>G	ENST00000369060.8:p.Lys410Glu
	ENST00000351936.11:c.1570A>G	ENST00000351936.11:p.Lys524Glu
	ENST00000369056.5:c.1579A>G	ENST00000369056.5:p.Lys527Glu
	ENST00000638709.2:c.400A>G	ENST00000638709.2:p.Lys134Glu
	ENST00000478859.5:c.892A>G	ENST00000478859.5:p.Lys298Glu
	ENST00000613048.4:c.1309A>G	ENST00000613048.4:p.Lys437Glu
	ENST00000682550.1:c.1225A>G	ENST00000682550.1:p.Lys409Glu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely 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	2005-08-01	no assertion criteria provided	Crouzon syndrome	germline	Detail
Pathogenic	2005-08-01	no assertion criteria provided	Familial scaphocephaly syndrome, McGillivray type	germline	Detail
Likely pathogenic	2024-03-25	criteria provided, single submitter	Pfeiffer syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.255	Craniofacial Dysostosis	NA	CLINVAR		Detail
0.480	SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000141.5(FGFR2):c.1576A>G (p.Lys526Glu) AND Crouzon syndrome	ClinVar	Detail
NM_000141.5(FGFR2):c.1576A>G (p.Lys526Glu) AND Familial scaphocephaly syndrome, McGillivray type	ClinVar	Detail
NM_000141.5(FGFR2):c.1576A>G (p.Lys526Glu) 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: rs121918507 dbSNP
Genome: hg19
Position: chr10:123,258,105-123,258,105
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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