Details for DUOX2:c.608-619del, p.Leu203-Pro207delinsProAla

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
NoneNone
VARIANT EFFECT None
ANNOTATION FLAG None
GENE DUOX2
REFERENCE ALLELE None
ALTERNATE ALLELE None
TRANSCRIPT N.A.
CDNA CHANGE c.608-619del
PROTEIN CHANGE p.Leu203-Pro207delinsProAla
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
--None-
DBSNP ID NA
1 combination linked to DUOX2:c.608-619del, p.Leu203-Pro207delinsProAla OLI1806
1 disease linked to DUOX2:c.608-619del, p.Leu203-Pro207delinsProAla Congenital hypothyroidism
Found any issues with the data on this page? Report this entry.