Details for SAR1B:c.314A>G, p.His105Arg

CHROMOSOME 5
GENOMIC COORDINATES
hg19hg38
133945295134609605
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SAR1B
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_001033503.2
CDNA CHANGE c.314A>G
PROTEIN CHANGE p.His105Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.591153Polymorphism
DBSNP ID rs1318588293
1 combination linked to SAR1B:c.314A>G, p.His105Arg OLI463
1 disease linked to SAR1B:c.314A>G, p.His105Arg Hypobetalipoproteinemia
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