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Details for SOD1:c.435G>C, p.Leu145Phe

CHROMOSOME

21

GENOMIC COORDINATES

hg19	hg38
33040861	31668548

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.435G>C

PROTEIN CHANGE

p.Leu145Phe

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
1.592e-05	0.0	0.0	0.0	0.0	0.0	3.521e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.180989	Disease causing

DBSNP ID

1 combination linked to SOD1:c.435G>C, p.Leu145Phe

1 disease linked to SOD1:c.435G>C, p.Leu145Phe

Amyotrophic lateral sclerosis

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