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Details for SOD1:c.335G>A, p.Cys112Tyr

CHROMOSOME

21

GENOMIC COORDINATES

hg19	hg38
33039666	31667353

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.335G>A

PROTEIN CHANGE

p.Cys112Tyr

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.129771	Disease causing

DBSNP ID

3 combinations linked to SOD1:c.335G>A, p.Cys112Tyr

OLI439; OLI941; OLI942

1 disease linked to SOD1:c.335G>A, p.Cys112Tyr

Amyotrophic lateral sclerosis

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