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Details for FGFR2:c.34G>A, p.Val12Met

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
123353298	121593784

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.34G>A

PROTEIN CHANGE

p.Val12Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0012	0.0038	0.0014	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0002267	0.001169	0.0001156	0.0	0.001359	0.0	6.155e-05	0.000163	3.266e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.287644	Polymorphism

DBSNP ID

1 combination linked to FGFR2:c.34G>A, p.Val12Met

1 disease linked to FGFR2:c.34G>A, p.Val12Met

46,XY disorder of sex development

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