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Details for ALPG:c.68-1G>C,

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
233271766	232407056

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.68-1G>C

PROTEIN CHANGE

None

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
8.754e-05	0.0	0.0	0.001092	0.0	0.0	5.279e-05	0.0001631	0.0001307

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	3.079549	Disease causing

DBSNP ID

1 combination linked to ALPG:c.68-1G>C,

1 disease linked to ALPG:c.68-1G>C,

Recurrent implantation failure,Primary infertility

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