Details for DUOX2:c.608_619del, p.Leu203_Pro207delinsPro

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
4540367745111479
VARIANT EFFECT None
ANNOTATION FLAG None
GENE DUOX2
REFERENCE ALLELE GGCCCCGACGCCA
ALTERNATE ALLELE G
TRANSCRIPT N.A.
CDNA CHANGE c.608_619del
PROTEIN CHANGE p.Leu203_Pro207delinsPro
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone1.731951Disease causing
DBSNP ID NA
1 combination linked to DUOX2:c.608_619del, p.Leu203_Pro207delinsPro OLI987
1 disease linked to DUOX2:c.608_619del, p.Leu203_Pro207delinsPro Congenital hypothyroidism
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