Details for FUS:c.833-29C>T,

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
3120041531189094
VARIANT EFFECT unknown
ANNOTATION FLAG manually_attributed
GENE FUS
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT ENST00000254108.7
CDNA CHANGE c.833-29C>T
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00440.00150.00860.00.01390.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.010410.002030.0052340.0091290.00.025430.014270.017440.001045

ESP
AAEA
0.0015930.01384
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone-0.128483Polymorphism
DBSNP ID rs72550862
2 combinations linked to FUS:c.833-29C>T, OLI628; OLI629
1 disease linked to FUS:c.833-29C>T, Amyotrophic lateral sclerosis
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