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Details for CNOT1:c.1634C>T, p.Ala545Val

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
32776408	32734916

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1634C>T

PROTEIN CHANGE

p.Ala545Val

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
3.181e-05	0.0	0.0	0.0	0.0	0.0	6.154e-05	0.0001629	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	3.059526	Polymorphism

DBSNP ID

1 combination linked to CNOT1:c.1634C>T, p.Ala545Val

1 disease linked to CNOT1:c.1634C>T, p.Ala545Val

Mayer-Rokitansky-Küster-Hauser syndrome

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