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Details for MUTYH:c.536A>G, p.Tyr179Cys

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
45798475	45332803

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.536A>G

PROTEIN CHANGE

p.Tyr179Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0014	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001535	0.0004926	0.001214	0.0	0.0	0.001524	0.002541	0.002117	3.266e-05

ESP
AA	EA
0.0004539	0.003023

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.765947	Disease causing

DBSNP ID

1 combination linked to MUTYH:c.536A>G, p.Tyr179Cys

1 disease linked to MUTYH:c.536A>G, p.Tyr179Cys

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