Details for FUS:c.170_172del, p.Ser57del

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
3119395931182638
VARIANT EFFECT None
ANNOTATION FLAG None
GENE FUS
REFERENCE ALLELE TTTC
ALTERNATE ALLELE T
TRANSCRIPT NM_001170937.1
CDNA CHANGE c.170_172del
PROTEIN CHANGE p.Ser57del
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNoneNoneNone
DBSNP ID NA
1 combination linked to FUS:c.170_172del, p.Ser57del OLI1633
1 disease linked to FUS:c.170_172del, p.Ser57del Amyotrophic lateral sclerosis
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