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Details for CACNA1H:c.2759C>T, p.Thr920Met

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
1256259	1206259

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2759C>T

PROTEIN CHANGE

p.Thr920Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0	0.0	0.0	0.002

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002255	0.001264	0.001125	0.003799	0.0	0.0004446	0.003453	0.00316	0.001851

ESP
AA	EA
0.000947	0.004651

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.465961	Polymorphism

DBSNP ID

1 combination linked to CACNA1H:c.2759C>T, p.Thr920Met

1 disease linked to CACNA1H:c.2759C>T, p.Thr920Met

Amyotrophic lateral sclerosis

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