Details for TG:c.5372delT, p.Leu1791CysfsTer12

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
133961157132948912
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_attributed
GENE TG
REFERENCE ALLELE AT
ALTERNATE ALLELE A
TRANSCRIPT NM_003235
CDNA CHANGE c.5372delT
PROTEIN CHANGE p.Leu1791CysfsTer12
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone1.85988Disease causing
DBSNP ID NA
1 combination linked to TG:c.5372delT, p.Leu1791CysfsTer12 OLI519
1 disease linked to TG:c.5372delT, p.Leu1791CysfsTer12 Congenital hypothyroidism
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