Details for OAT:c.897C>G, p.Tyr299Ter

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
126091499124402930
VARIANT EFFECT nonsense
ANNOTATION FLAG automatically_attributed_and_verified
GENE OAT
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_000274.4
CDNA CHANGE c.897C>G
PROTEIN CHANGE p.Tyr299Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.591e-050.00.00.00.00.03.519e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone6.426288Disease causing
DBSNP ID rs121965057
1 combination linked to OAT:c.897C>G, p.Tyr299Ter OLI812
1 disease linked to OAT:c.897C>G, p.Tyr299Ter Recurrent exertional rhabdomyolysis
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