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Details for FGFR1:c.211G>A, p.Val71Met

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
38287446	38429928

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.211G>A

PROTEIN CHANGE

p.Val71Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
1.64e-05	0.0001317	5.86e-05	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.363534	Polymorphism

DBSNP ID

1 combination linked to FGFR1:c.211G>A, p.Val71Met

1 disease linked to FGFR1:c.211G>A, p.Val71Met

46,XY disorder of sex development

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