Details for DUOX2:c.4027C>T, p.Leu1343Phe

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
4538807945095881
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE DUOX2
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_014080.4
CDNA CHANGE c.4027C>T
PROTEIN CHANGE p.Leu1343Phe
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0010.00.00.0050.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00059270.00030760.00.00.0075020.00.00.00048899.799e-05

ESP
AAEA
0.00068240.0
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging4.08024Disease causing
DBSNP ID rs147945181
2 combinations linked to DUOX2:c.4027C>T, p.Leu1343Phe OLI565; OLI991
1 disease linked to DUOX2:c.4027C>T, p.Leu1343Phe Congenital hypothyroidism
Found any issues with the data on this page? Report this entry.