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Details for HDAC5:c.446A>G, p.Glu149Gly

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
42170765	44093397

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.446A>G

PROTEIN CHANGE

p.Glu149Gly

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
4.717e-06	0.0	0.0	0.0	0.0	0.0	1.059e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.989334	Polymorphism

DBSNP ID

1 combination linked to HDAC5:c.446A>G, p.Glu149Gly

1 disease linked to HDAC5:c.446A>G, p.Glu149Gly

Primary ovarian failure

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