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Details for ANAPC1:c.2279C>G, p.Pro760Arg

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
112592286	111834709

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.2279C>G

PROTEIN CHANGE

p.Pro760Arg

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0	0.0	0.002	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
6.378e-05	0.0	0.0	0.0	0.0	4.62e-05	0.0001236	0.0001638	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	3.821921	Disease causing

DBSNP ID

1 combination linked to ANAPC1:c.2279C>G, p.Pro760Arg

1 disease linked to ANAPC1:c.2279C>G, p.Pro760Arg

Primary ovarian failure

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