Details for NOB1:c.862T>A, p.Cys288Ser

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
6977888369744980
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE NOB1
REFERENCE ALLELE A
ALTERNATE ALLELE T
TRANSCRIPT NM_014062.2
CDNA CHANGE c.862T>A
PROTEIN CHANGE p.Cys288Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00012730.00.00.00.00.00041590.00018470.00032570.0

ESP
AAEA
0.00.0002326
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.718005Disease causing
DBSNP ID rs144374127
1 combination linked to NOB1:c.862T>A, p.Cys288Ser OLI329
1 disease linked to NOB1:c.862T>A, p.Cys288Ser Amyotrophic lateral sclerosis
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