Details for PAX3:c.592delG, p.Ala198HisfsTer18

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
223096996222232277
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_attributed
GENE PAX3
REFERENCE ALLELE GC
ALTERNATE ALLELE G
TRANSCRIPT NM_181459.4
CDNA CHANGE c.592delG
PROTEIN CHANGE p.Ala198HisfsTer18
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone4.692728Disease causing
DBSNP ID NA
1 combination linked to PAX3:c.592delG, p.Ala198HisfsTer18 OLI137
1 disease linked to PAX3:c.592delG, p.Ala198HisfsTer18 Waardenburg syndrome
Found any issues with the data on this page? Report this entry.