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Details for NCOR1:c.6544G>A, p.Ala2182Thr

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
15950400	16047086

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.6544G>A

PROTEIN CHANGE

p.Ala2182Thr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0022	0.0	0.0029	0.0	0.008	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.006672	0.00136	0.002306	0.008109	0.0	0.005623	0.01142	0.009609	0.0007656

ESP
AA	EA
0.002497	0.01209

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.734927	Polymorphism

DBSNP ID

1 combination linked to NCOR1:c.6544G>A, p.Ala2182Thr

1 disease linked to NCOR1:c.6544G>A, p.Ala2182Thr

Disorder of sex development

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