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Details for HK3:c.2389G>A, p.Glu797Lys

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
176308697	176881696

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.2389G>A

PROTEIN CHANGE

p.Glu797Lys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.001	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001034	0.0	0.0001736	0.0	0.0003262	4.624e-05	0.0001056	0.0001632	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.305024	Disease causing

DBSNP ID

1 combination linked to HK3:c.2389G>A, p.Glu797Lys

1 disease linked to HK3:c.2389G>A, p.Glu797Lys

Primary ovarian failure

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