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Details for SPG11:c.4148A>G, p.Tyr1383Cys

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
44888995	44596797

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.4148A>G

PROTEIN CHANGE

p.Tyr1383Cys

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.567132	Polymorphism

DBSNP ID

1 combination linked to SPG11:c.4148A>G, p.Tyr1383Cys

1 disease linked to SPG11:c.4148A>G, p.Tyr1383Cys

Amyotrophic lateral sclerosis

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