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Details for BMPR2:c.1471C>T, p.Arg491Trp

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
203417496	202552773

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1471C>T

PROTEIN CHANGE

p.Arg491Trp

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.401308	Disease causing

DBSNP ID

1 combination linked to BMPR2:c.1471C>T, p.Arg491Trp

2 diseases linked to BMPR2:c.1471C>T, p.Arg491Trp

Pulmonary arterial hypertension; Heritable pulmonary arterial hypertension

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