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Details for NOTCH2:c.2084C>A, p.Ala695Glu

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
120497798	119955175

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.2084C>A

PROTEIN CHANGE

p.Ala695Glu

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	Possibly Damaging	3.762545	Polymorphism

DBSNP ID

1 combination linked to NOTCH2:c.2084C>A, p.Ala695Glu

1 disease linked to NOTCH2:c.2084C>A, p.Ala695Glu

Primary ovarian failure

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