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Details for NCOR2:c.3755C>A, p.Pro1252Gln

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
124835222	124350676

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.3755C>A

PROTEIN CHANGE

p.Pro1252Gln

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	3.905344	Polymorphism

DBSNP ID

1 combination linked to NCOR2:c.3755C>A, p.Pro1252Gln

1 disease linked to NCOR2:c.3755C>A, p.Pro1252Gln

Primary ovarian failure

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