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Details for RBBP8:c.2516G>A, p.Arg839Gln

CHROMOSOME

18

GENOMIC COORDINATES

hg19	hg38
20602153	23022190

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.2516G>A

PROTEIN CHANGE

p.Arg839Gln

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0014	0.0	0.002	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0004494	0.0001845	0.0002602	0.0	0.0	0.0001386	0.0008353	0.0004889	0.0

ESP
AA	EA
0.000227	0.001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	4.58941	Polymorphism

DBSNP ID

2 combinations linked to RBBP8:c.2516G>A, p.Arg839Gln

OLI1049; OLI1056

1 disease linked to RBBP8:c.2516G>A, p.Arg839Gln

Primary ovarian failure

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