Details for TG:c.2762-1G>A,

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
133905934132893689
VARIANT EFFECT splicing
ANNOTATION FLAG automatically_attributed_and_verified
GENE TG
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_003235.4
CDNA CHANGE c.2762-1G>A
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
3.978e-060.00.00.00.00.00.00.03.266e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone5.446851Disease causing
DBSNP ID rs1319575850
1 combination linked to TG:c.2762-1G>A, OLI566
1 disease linked to TG:c.2762-1G>A, Congenital hypothyroidism

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