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Details for MTOR:c.889G>A, p.Asp297Asn

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
11308103	11248046

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.889G>A

PROTEIN CHANGE

p.Asp297Asn

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
8.373e-05	0.0	0.0	0.0	0.0	0.0	0.0001763	0.0	3.274e-05

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	3.577888	Polymorphism

DBSNP ID

1 combination linked to MTOR:c.889G>A, p.Asp297Asn

1 disease linked to MTOR:c.889G>A, p.Asp297Asn

Kallmann syndrome

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