Details for PAX8:c.1037C>T, p.Pro346Leu

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
113993021113235444
VARIANT EFFECT None
ANNOTATION FLAG None
GENE PAX8
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_003466
CDNA CHANGE c.1037C>T
PROTEIN CHANGE p.Pro346Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.675e-050.00.00.00.00.03.711e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.251625Polymorphism
DBSNP ID rs754826653
2 combinations linked to PAX8:c.1037C>T, p.Pro346Leu OLI1093; OLI1507
1 disease linked to PAX8:c.1037C>T, p.Pro346Leu Congenital hypothyroidism
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