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Details for BMP15:c.208A>C, p.Met70Leu

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
50653991	50910991

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.208A>C

PROTEIN CHANGE

p.Met70Leu

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
6.823e-06	0.0	0.0	0.0	8.909e-05	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	2.880026	Polymorphism

DBSNP ID

1 combination linked to BMP15:c.208A>C, p.Met70Leu

1 disease linked to BMP15:c.208A>C, p.Met70Leu

Primary ovarian failure

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