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Details for SOD2:c.201G>C, p.Glu67Asp

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
160113718	159692686

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.201G>C

PROTEIN CHANGE

p.Glu67Asp

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
3.986e-06	0.0	0.0	0.0	0.0	0.0	8.819e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	2.246888	Disease causing

DBSNP ID

1 combination linked to SOD2:c.201G>C, p.Glu67Asp

1 disease linked to SOD2:c.201G>C, p.Glu67Asp

Isolated anencephaly

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