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Details for CACNA1H:c.713T>G, p.Phe238Cys

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
1248684	1198684

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.713T>G

PROTEIN CHANGE

p.Phe238Cys

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
0.0003253	0.0	0.0	9.954e-05	0.0003338	0.0002327	0.0005759	0.0001652	9.803e-05

ESP
AA	EA
0.0	0.0008191

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	3.431011	Disease causing

DBSNP ID

1 combination linked to CACNA1H:c.713T>G, p.Phe238Cys

1 disease linked to CACNA1H:c.713T>G, p.Phe238Cys

Amyotrophic lateral sclerosis

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