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Details for SOD1:c.34G>T, p.Asp12Tyr

CHROMOSOME

21

GENOMIC COORDINATES

hg19	hg38
33032116	31659803

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.34G>T

PROTEIN CHANGE

p.Asp12Tyr

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
7.985e-06	0.0	0.0	0.0	0.0	4.659e-05	8.839e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.774628	None

DBSNP ID

1 combination linked to SOD1:c.34G>T, p.Asp12Tyr

1 disease linked to SOD1:c.34G>T, p.Asp12Tyr

Amyotrophic lateral sclerosis

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