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Details for ALPK3:p.Thr81Met

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
85360319	84817088

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Thr81Met

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
0.0007543	0.0	0.0004758	0.01116	0.0	0.0	0.0003216	0.001711	0.0001441

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	0.831308	Polymorphism

DBSNP ID

1 combination linked to ALPK3:p.Thr81Met

1 disease linked to ALPK3:p.Thr81Met

Hypertrophic cardiomyopathy

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