Details for IFT172:c.1028C>G, p.Ser343Ter

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
2770100127478134
VARIANT EFFECT None
ANNOTATION FLAG None
GENE IFT172
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT N.A.
CDNA CHANGE c.1028C>G
PROTEIN CHANGE p.Ser343Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone6.782437Disease causing
DBSNP ID NA
1 combination linked to IFT172:c.1028C>G, p.Ser343Ter OLI929
1 disease linked to IFT172:c.1028C>G, p.Ser343Ter Transposition of the great arteries
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