Details for DUOX2:p.Val407Phe

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
4540173745109539
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE DUOX2
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Val407Phe
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.20615Disease causing
DBSNP ID rs1595527210
1 combination linked to DUOX2:p.Val407Phe OLI474
1 disease linked to DUOX2:p.Val407Phe Congenital hypothyroidism
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