Details for DUOX2:c.2335G>A, p.Val779Met

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
4539656345104365
VARIANT EFFECT None
ANNOTATION FLAG None
GENE DUOX2
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_014080.4
CDNA CHANGE c.2335G>A
PROTEIN CHANGE p.Val779Met
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0010.00.00.0050.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00029420.00.00.00.0039850.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.731805Polymorphism
DBSNP ID rs145061993
2 combinations linked to DUOX2:c.2335G>A, p.Val779Met OLI1089; OLI1808
1 disease linked to DUOX2:c.2335G>A, p.Val779Met Congenital hypothyroidism
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