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Details for GALC:c.437C>T, p.Ala146Val

CHROMOSOME

14

GENOMIC COORDINATES

hg19	hg38
88450805	87984461

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed_and_verified

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.437C>T

PROTEIN CHANGE

p.Ala146Val

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
2.806e-05	0.0	0.0	0.0	0.0	0.0002783	0.0	0.000165	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.46308	Polymorphism

DBSNP ID

1 combination linked to GALC:c.437C>T, p.Ala146Val

1 disease linked to GALC:c.437C>T, p.Ala146Val

Amyotrophic lateral sclerosis

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