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Details for CACNA1H:c.3691C>T, p.Arg1231Cys

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
1259359	1209359

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.3691C>T

PROTEIN CHANGE

p.Arg1231Cys

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
2.169e-05	7.105e-05	5.84e-05	0.0	0.0	0.0	9.35e-06	0.0	3.293e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.577967	Polymorphism

DBSNP ID

1 combination linked to CACNA1H:c.3691C>T, p.Arg1231Cys

1 disease linked to CACNA1H:c.3691C>T, p.Arg1231Cys

Amyotrophic lateral sclerosis

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