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Details for SOD1:c.341T>C, p.Ile114Thr

CHROMOSOME

21

GENOMIC COORDINATES

hg19	hg38
33039672	31667359

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.341T>C

PROTEIN CHANGE

p.Ile114Thr

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
4.772e-05	0.0	0.0	0.0	0.0	0.0	0.0001055	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.874378	Disease causing

DBSNP ID

4 combinations linked to SOD1:c.341T>C, p.Ile114Thr

OLI634; OLI635; OLI636; OLI778

1 disease linked to SOD1:c.341T>C, p.Ile114Thr

Amyotrophic lateral sclerosis

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