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Details for BMP15:c.13A>C, p.Ser5Arg

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
50653796	50910796

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.13A>C

PROTEIN CHANGE

p.Ser5Arg

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0358	0.1286	0.0095	0.0	0.0013	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.009278	0.1143	0.005596	0.0009602	0.0	0.0	0.0001332	0.002558	0.0002305

ESP
AA	EA
0.1155	0.0001487

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	0.996889	Polymorphism

DBSNP ID

2 combinations linked to BMP15:c.13A>C, p.Ser5Arg

1 disease linked to BMP15:c.13A>C, p.Ser5Arg

Primary ovarian failure

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