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Details for CACNA1H:c.4817C>T, p.Thr1606Met

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
1263819	1213819

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.4817C>T

PROTEIN CHANGE

p.Thr1606Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.002	0.0	0.0014	0.0	0.006	0.0031

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.005013	0.001301	0.002114	0.0007622	0.0	0.004346	0.007966	0.006669	0.004264

ESP
AA	EA
0.001947	0.00798

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	1.941973	Polymorphism

DBSNP ID

1 combination linked to CACNA1H:c.4817C>T, p.Thr1606Met

1 disease linked to CACNA1H:c.4817C>T, p.Thr1606Met

Amyotrophic lateral sclerosis

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