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Details for STARD3:c.740C>T, p.Ala247Val

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
37815751	39659498

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.740C>T

PROTEIN CHANGE

p.Ala247Val

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
1.99e-05	0.0	5.785e-05	0.0	0.0	0.0	2.642e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.010497	Polymorphism

DBSNP ID

1 combination linked to STARD3:c.740C>T, p.Ala247Val

2 diseases linked to STARD3:c.740C>T, p.Ala247Val

46,XY disorder of sex development; Rare congenital non-syndromic heart malformation

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