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Details for GALC:c.256A>G, p.Thr86Ala

CHROMOSOME

14

GENOMIC COORDINATES

hg19	hg38
88454491	87988147

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed_and_verified

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.256A>G

PROTEIN CHANGE

p.Thr86Ala

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
8.019e-06	0.0	2.896e-05	0.0	0.0	0.0	8.835e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.84111	Disease causing

DBSNP ID

1 combination linked to GALC:c.256A>G, p.Thr86Ala

1 disease linked to GALC:c.256A>G, p.Thr86Ala

Amyotrophic lateral sclerosis

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