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Details for PPARGC1B:c.2668G>A, p.Ala890Thr

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
149219653	149840090

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2668G>A

PROTEIN CHANGE

p.Ala890Thr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0028	0.0	0.0144	0.0	0.004	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.01134	0.0004929	0.05663	0.004778	0.003703	0.02359	0.001113	0.00932	0.002361

ESP
AA	EA
0.0009079	0.0006977

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.421698	Polymorphism

DBSNP ID

1 combination linked to PPARGC1B:c.2668G>A, p.Ala890Thr

1 disease linked to PPARGC1B:c.2668G>A, p.Ala890Thr

Disorder of sex development

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