Details for TG:c.6791G>T, p.Cys2264Phe

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
134031855133019610
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TG
REFERENCE ALLELE G
ALTERNATE ALLELE T
TRANSCRIPT NM_003235
CDNA CHANGE c.6791G>T
PROTEIN CHANGE p.Cys2264Phe
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.110197Polymorphism
DBSNP ID NA
2 combinations linked to TG:c.6791G>T, p.Cys2264Phe OLI1083; OLI1501
1 disease linked to TG:c.6791G>T, p.Cys2264Phe Congenital hypothyroidism

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