Details for HOXB3:c.488_489insCGGCGGCGG, p.Gly163delinsGlyGlyGlyGly

CHROMOSOME 17
GENOMIC COORDINATES
hg19hg38
4662850348551141
VARIANT EFFECT None
ANNOTATION FLAG None
GENE HOXB3
REFERENCE ALLELE T
ALTERNATE ALLELE TCCGCCGCCG
TRANSCRIPT N.A.
CDNA CHANGE c.488_489insCGGCGGCGG
PROTEIN CHANGE p.Gly163delinsGlyGlyGlyGly
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone0.387735Polymorphism
DBSNP ID NA
1 combination linked to HOXB3:c.488_489insCGGCGGCGG, p.Gly163delinsGlyGlyGlyGly OLI1504
1 disease linked to HOXB3:c.488_489insCGGCGGCGG, p.Gly163delinsGlyGlyGlyGly Congenital hypothyroidism
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