Details for SPG11:c.6224A>G, p.Asn2075Ser

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
4486500044572802
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SPG11
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_025137.3
CDNA CHANGE c.6224A>G
PROTEIN CHANGE p.Asn2075Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00180.00080.00430.00.0040.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0029540.00067670.0048280.0051590.00021750.00036950.0040960.003910.0003593

ESP
AAEA
0.00090990.005002
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign-0.264544Polymorphism
DBSNP ID rs140824939
1 combination linked to SPG11:c.6224A>G, p.Asn2075Ser OLI632
1 disease linked to SPG11:c.6224A>G, p.Asn2075Ser Amyotrophic lateral sclerosis
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