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Details for ABCC8:c.3394G>A, p.Asp1132Asn

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
17427046	17405499

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.3394G>A

PROTEIN CHANGE

p.Asp1132Asn

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	4.605258	Disease causing

DBSNP ID

1 combination linked to ABCC8:c.3394G>A, p.Asp1132Asn

1 disease linked to ABCC8:c.3394G>A, p.Asp1132Asn

Pulmonary arterial hypertension associated with congenital heart disease

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