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Details for CACNA1H:c.3043G>A, p.Val1015Met

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
1257410	1207410

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.3043G>A

PROTEIN CHANGE

p.Val1015Met

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
2.422e-05	6.519e-05	5.806e-05	0.0	0.0	0.0	1.787e-05	0.0	3.272e-05

ESP
AA	EA
0.0002521	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.654009	Disease causing

DBSNP ID

1 combination linked to CACNA1H:c.3043G>A, p.Val1015Met

1 disease linked to CACNA1H:c.3043G>A, p.Val1015Met

Amyotrophic lateral sclerosis

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