Details for SPG11:c.2083G>A, p.Ala695Thr

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
4491869044626492
VARIANT EFFECT None
ANNOTATION FLAG None
GENE SPG11
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE c.2083G>A
PROTEIN CHANGE p.Ala695Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00340.00080.00430.00.01090.002

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.012860.0020360.0034180.012025.441e-050.044870.016120.011960.002655

ESP
AAEA
0.0029570.01315
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.88272Polymorphism
DBSNP ID NA
1 combination linked to SPG11:c.2083G>A, p.Ala695Thr OLI969
1 disease linked to SPG11:c.2083G>A, p.Ala695Thr Amyotrophic lateral sclerosis
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