Details for SPG11:p.Cys1734Phe

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
4487667744584479
VARIANT EFFECT None
ANNOTATION FLAG None
GENE SPG11
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Cys1734Phe
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
2.39e-050.00.00.00.00032670.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.092438Disease causing
DBSNP ID NA
1 combination linked to SPG11:p.Cys1734Phe OLI1704
1 disease linked to SPG11:p.Cys1734Phe Amyotrophic lateral sclerosis

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