Details for DUOX2:c.3516_3531del, p.Lys1174SerfsTer12

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
4539024045098042
VARIANT EFFECT None
ANNOTATION FLAG None
GENE DUOX2
REFERENCE ALLELE TCTGGGGAAGCTTGGAC
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE c.3516_3531del
PROTEIN CHANGE p.Lys1174SerfsTer12
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone5.30679Disease causing
DBSNP ID NA
2 combinations linked to DUOX2:c.3516_3531del, p.Lys1174SerfsTer12 OLI988; OLI990
1 disease linked to DUOX2:c.3516_3531del, p.Lys1174SerfsTer12 Congenital hypothyroidism
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