Details for JUP:c.1130G>A, p.Arg377His

CHROMOSOME 17
GENOMIC COORDINATES
hg19hg38
3992099341764741
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE JUP
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_002230.2
CDNA CHANGE c.1130G>A
PROTEIN CHANGE p.Arg377His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
5.174e-050.02.891e-050.00.00021750.01.76e-050.00016310.0001633

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.194275Disease causing
DBSNP ID rs794729044
1 combination linked to JUP:c.1130G>A, p.Arg377His OLI547
1 disease linked to JUP:c.1130G>A, p.Arg377His Arrhythmogenic right ventricular cardiomyopathy
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