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Details for ATG2A:c.4414G>C, p.Gly1472Arg

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
64668016	64900544

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.4414G>C

PROTEIN CHANGE

p.Gly1472Arg

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
1.599e-05	0.0001237	0.0	0.0	0.0	0.0	1.769e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.103175	Polymorphism

DBSNP ID

1 combination linked to ATG2A:c.4414G>C, p.Gly1472Arg

1 disease linked to ATG2A:c.4414G>C, p.Gly1472Arg

Primary ovarian failure

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