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Details for MTOR:c.307C>T, p.Arg103Ter

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
11317187	11257130

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.307C>T

PROTEIN CHANGE

p.Arg103Ter

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
3.999e-06	0.0	0.0	0.0	0.0	0.0	8.836e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	6.67243	Disease causing

DBSNP ID

1 combination linked to MTOR:c.307C>T, p.Arg103Ter

1 disease linked to MTOR:c.307C>T, p.Arg103Ter

Recurrent implantation failure,Primary infertility

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