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Details for NCOR2:c.3760C>T, p.Arg1254Cys

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
124835217	124350671

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.3760C>T

PROTEIN CHANGE

p.Arg1254Cys

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
0.0001726	0.0	0.0	0.0	0.0	0.0005144	0.0002565	0.0003305	3.268e-05

ESP
AA	EA
0.0	0.000234

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.220915	Polymorphism

DBSNP ID

1 combination linked to NCOR2:c.3760C>T, p.Arg1254Cys

1 disease linked to NCOR2:c.3760C>T, p.Arg1254Cys

Primary ovarian failure

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