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Details for RAD52:c.388G>A, p.Glu130Lys

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
1036390	927224

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.388G>A

PROTEIN CHANGE

p.Glu130Lys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0	0.0	0.003	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001511	0.0	0.0002891	0.0	0.0	0.0	0.0002198	0.0001629	6.533e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.556582	Disease causing

DBSNP ID

1 combination linked to RAD52:c.388G>A, p.Glu130Lys

1 disease linked to RAD52:c.388G>A, p.Glu130Lys

Primary ovarian failure

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