Details for MYC:c.921C>G, p.His307Gln

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
128752760127740514
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed_and_verified
GENE MYC
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT NM_002467.6
CDNA CHANGE c.921C>G
PROTEIN CHANGE p.His307Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedDamaging2.271205None
DBSNP ID NA
1 combination linked to MYC:c.921C>G, p.His307Gln OLI513
1 disease linked to MYC:c.921C>G, p.His307Gln MODY

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