Details for TPO:c.1535C>A, p.Pro512His

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
14885641484792
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE TPO
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_000547.5
CDNA CHANGE c.1535C>A
PROTEIN CHANGE p.Pro512His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.196e-050.00018560.00.00.00.00.00.00.0

ESP
AAEA
0.0002270.0
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging2.179962Polymorphism
DBSNP ID rs150489706
1 combination linked to TPO:c.1535C>A, p.Pro512His OLI031
1 disease linked to TPO:c.1535C>A, p.Pro512His Congenital hypothyroidism
Found any issues with the data on this page? Report this entry.