Details for TRAP1:c.383G>A, p.Arg128His

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
37360853686084
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE TRAP1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_016292.3
CDNA CHANGE c.383G>A
PROTEIN CHANGE p.Arg128His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00280.00.00140.00.0020.0112

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0031420.00055380.0018240.0019840.04.62e-050.0027250.0039130.01186

ESP
AAEA
0.00045520.001977
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.270478Disease causing
DBSNP ID rs61758086
1 combination linked to TRAP1:c.383G>A, p.Arg128His OLI026
1 disease linked to TRAP1:c.383G>A, p.Arg128His Autoinflammatory syndrome
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