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Details for BMP15:c.202C>T, p.Arg68Trp

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
50653985	50910985

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.202C>T

PROTEIN CHANGE

p.Arg68Trp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0005	0.0	0.0	0.0	0.0026	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0006997	0.0002948	0.0002537	0.0	0.0	0.0	0.001449	0.0002628	0.0002574

ESP
AA	EA
0.0002612	0.001785

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	2.21811	Polymorphism

DBSNP ID

1 combination linked to BMP15:c.202C>T, p.Arg68Trp

1 disease linked to BMP15:c.202C>T, p.Arg68Trp

Primary ovarian failure

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