Details for DUOX2:c.227C>T, p.Pro76Leu

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
4540485045112652
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE DUOX2
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_014080.4
CDNA CHANGE c.227C>T
PROTEIN CHANGE p.Pro76Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
2.423e-050.00.00.00.00032840.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging4.40211Disease causing
DBSNP ID rs767705906
1 combination linked to DUOX2:c.227C>T, p.Pro76Leu OLI565
1 disease linked to DUOX2:c.227C>T, p.Pro76Leu Congenital hypothyroidism
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