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Details for ANKRD1:c.827C>T, p.Ala276Val

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
92675322	90915565

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.827C>T

PROTEIN CHANGE

p.Ala276Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002744	0.0004922	0.0006364	0.02067	0.0	0.0003702	0.003579	0.002936	0.0006206

ESP
AA	EA
0.0009079	0.005814

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.640872	Polymorphism

DBSNP ID

1 combination linked to ANKRD1:c.827C>T, p.Ala276Val

1 disease linked to ANKRD1:c.827C>T, p.Ala276Val

Left ventricular noncompaction

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