Details for DUOX2:c.2895_2898delGTTC, p.Phe966SerfsTer29

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
4539342545101227
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_attributed
GENE DUOX2
REFERENCE ALLELE TGAAC
ALTERNATE ALLELE T
TRANSCRIPT NM_014080
CDNA CHANGE c.2895_2898delGTTC
PROTEIN CHANGE p.Phe966SerfsTer29
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
None0.00.00580.00.0050.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0029370.00062110.0016230.00.00.011750.0029110.003430.00213

ESP
AAEA
0.00023450.004362
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone4.940925Disease causing
DBSNP ID rs530719719
1 combination linked to DUOX2:c.2895_2898delGTTC, p.Phe966SerfsTer29 OLI518
1 disease linked to DUOX2:c.2895_2898delGTTC, p.Phe966SerfsTer29 Congenital hypothyroidism
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