Details for TPO:c.2647C>T, p.Pro883Ser

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
15443941540622
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TPO
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_001206744.2
CDNA CHANGE c.2647C>T
PROTEIN CHANGE p.Pro883Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00140.00.00.00690.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00044620.02.891e-050.00.0058760.00.00.00032643.266e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.409501Disease causing
DBSNP ID rs190968346
2 combinations linked to TPO:c.2647C>T, p.Pro883Ser OLI1490; OLI995
1 disease linked to TPO:c.2647C>T, p.Pro883Ser Congenital hypothyroidism
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