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Details for RAD54L:c.604C>T, p.Arg202Cys

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
46726525	46260853

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.604C>T

PROTEIN CHANGE

p.Arg202Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.003	0.0015	0.0058	0.0	0.0089	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003056	0.001169	0.004308	0.0008932	0.0001087	0.003095	0.004288	0.003587	0.0004246

ESP
AA	EA
0.0004539	0.004302

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.353771	Polymorphism

DBSNP ID

1 combination linked to RAD54L:c.604C>T, p.Arg202Cys

1 disease linked to RAD54L:c.604C>T, p.Arg202Cys

Primary ovarian failure

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