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Details for IGF2:c.97C>T, p.Gln33Ter

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
2161430	2140200

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.97C>T

PROTEIN CHANGE

p.Gln33Ter

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0008	0.0	0.0029	0.0	0.002	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0008136	0.0	0.0007245	0.0006986	0.0	0.0001392	0.001114	0.0008273	0.001209

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	6.586737	Polymorphism

DBSNP ID

1 combination linked to IGF2:c.97C>T, p.Gln33Ter

1 disease linked to IGF2:c.97C>T, p.Gln33Ter

Recurrent Pregnancy Loss,Recurrent implantation failure,Primary infertility

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