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Details for SPG11:p.Cys1734Phe

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
44876677	44584479

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Cys1734Phe

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
2.39e-05	0.0	0.0	0.0	0.0003267	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.092438	Disease causing

DBSNP ID

1 combination linked to SPG11:p.Cys1734Phe

1 disease linked to SPG11:p.Cys1734Phe

Amyotrophic lateral sclerosis

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