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Details for NCOR2:c.3709G>A, p.Val1237Ile

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
124835268	124350722

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.3709G>A

PROTEIN CHANGE

p.Val1237Ile

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
2.023e-05	0.0	0.0	0.0	0.0	4.963e-05	3.557e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.798548	Polymorphism

DBSNP ID

1 combination linked to NCOR2:c.3709G>A, p.Val1237Ile

1 disease linked to NCOR2:c.3709G>A, p.Val1237Ile

Primary ovarian failure

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