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Details for SOD1:c.272A>C, p.Asp91Ala

CHROMOSOME

21

GENOMIC COORDINATES

hg19	hg38
33039603	31667290

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.272A>C

PROTEIN CHANGE

p.Asp91Ala

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0	0.0	0.002	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001432	0.0	8.674e-05	0.0	0.0	0.01146	0.0007296	0.001304	0.0005879

ESP
AA	EA
0.0	0.000814

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	0.508335	Disease causing

DBSNP ID

9 combinations linked to SOD1:c.272A>C, p.Asp91Ala

OLI335; OLI777; OLI964; OLI965; OLI966; OLI967; OLI968; OLI969; OLI970

1 disease linked to SOD1:c.272A>C, p.Asp91Ala

Amyotrophic lateral sclerosis

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