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Details for AGRN:c.2860G>A, p.Ala954Thr

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
981594	1046214

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.2860G>A

PROTEIN CHANGE

p.Ala954Thr

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
2.39e-05	0.0	0.0	0.0	0.0	0.0	4.408e-05	0.0	3.266e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.274526	Disease causing

DBSNP ID

1 combination linked to AGRN:c.2860G>A, p.Ala954Thr

1 disease linked to AGRN:c.2860G>A, p.Ala954Thr

Primary ovarian failure

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