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Details for BMPR2:c.1042G>A, p.Val348Ile

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
203395591	202530868

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1042G>A

PROTEIN CHANGE

p.Val348Ile

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.001	0.0	0.0	0.005	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0005369	0.0	0.0	0.0	0.007339	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	3.774856	Disease causing

DBSNP ID

1 combination linked to BMPR2:c.1042G>A, p.Val348Ile

1 disease linked to BMPR2:c.1042G>A, p.Val348Ile

Primary ovarian failure

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