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Details for NCOR2:c.3698C>T, p.Thr1233Met

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
124835279	124350733

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.3698C>T

PROTEIN CHANGE

p.Thr1233Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0008	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0006057	0.0002581	0.00061	0.0	5.572e-05	0.0	0.0009983	0.001333	9.82e-05

ESP
AA	EA
0.0002286	0.0008176

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.701582	Polymorphism

DBSNP ID

1 combination linked to NCOR2:c.3698C>T, p.Thr1233Met

1 disease linked to NCOR2:c.3698C>T, p.Thr1233Met

Left ventricular noncompaction

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