Details for HOXB3:c.548C>T, p.Pro183Leu

CHROMOSOME 17
GENOMIC COORDINATES
hg19hg38
4662844448551082
VARIANT EFFECT None
ANNOTATION FLAG None
GENE HOXB3
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_002146.4
CDNA CHANGE c.548C>T
PROTEIN CHANGE p.Pro183Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
2.408e-050.00.00017230.00.00.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.449116Polymorphism
DBSNP ID rs769209543
1 combination linked to HOXB3:c.548C>T, p.Pro183Leu OLI1094
1 disease linked to HOXB3:c.548C>T, p.Pro183Leu Congenital hypothyroidism
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