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Details for NOTCH3:c.2791A>G, p.Ser931Gly

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
15292388	15181577

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.2791A>G

PROTEIN CHANGE

p.Ser931Gly

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	Benign	4.852428	Disease causing

DBSNP ID

1 combination linked to NOTCH3:c.2791A>G, p.Ser931Gly

1 disease linked to NOTCH3:c.2791A>G, p.Ser931Gly

Primary ovarian failure

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