Details for TAF15:c.1222C>T, p.Arg408Cys

CHROMOSOME 17
GENOMIC COORDINATES
hg19hg38
3417152535844521
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE TAF15
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_139215.3
CDNA CHANGE c.1222C>T
PROTEIN CHANGE p.Arg408Cys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
6.071e-050.00.00.00.00.00.00013520.00.0

ESP
AAEA
0.00.0002326
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging4.368525None
DBSNP ID rs200175347
1 combination linked to TAF15:c.1222C>T, p.Arg408Cys OLI282
1 disease linked to TAF15:c.1222C>T, p.Arg408Cys Amyotrophic lateral sclerosis
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