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Details for FSHR:c.847C>T, p.Arg283Trp

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
49195844	48968705

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.847C>T

PROTEIN CHANGE

p.Arg283Trp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0008	0.0	0.001	0.0	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
6.375e-05	0.000123	0.0001157	0.0	0.0	0.0	7.059e-05	0.0	6.533e-05

ESP
AA	EA
0.0	0.0002326

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.764369	Polymorphism

DBSNP ID

1 combination linked to FSHR:c.847C>T, p.Arg283Trp

1 disease linked to FSHR:c.847C>T, p.Arg283Trp

Primary ovarian failure

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