Details for SPG11:p.Leu2357Phe

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
4485682744564629
VARIANT EFFECT None
ANNOTATION FLAG None
GENE SPG11
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Leu2357Phe
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00180.00.00720.00.0040.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0014020.00012420.0017930.0096270.00.00.0014790.0026240.0002287

ESP
AAEA
0.00068240.00221
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.700847Polymorphism
DBSNP ID NA
1 combination linked to SPG11:p.Leu2357Phe OLI967
1 disease linked to SPG11:p.Leu2357Phe Amyotrophic lateral sclerosis
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