Details for DUOX2:c.959T>C, p.Leu320Pro

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
4540270745110509
VARIANT EFFECT None
ANNOTATION FLAG None
GENE DUOX2
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT N.A.
CDNA CHANGE c.959T>C
PROTEIN CHANGE p.Leu320Pro
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
3.183e-050.00.00.00.0004350.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.301688Polymorphism
DBSNP ID NA
1 combination linked to DUOX2:c.959T>C, p.Leu320Pro OLI992
1 disease linked to DUOX2:c.959T>C, p.Leu320Pro Congenital hypothyroidism
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