Details for LRP2:c.2514_2517del, p.Gly838gs

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
7011375569886623
VARIANT EFFECT None
ANNOTATION FLAG None
GENE LRP2
REFERENCE ALLELE GATAC
ALTERNATE ALLELE G
TRANSCRIPT N.A.
CDNA CHANGE c.2514_2517del
PROTEIN CHANGE p.Gly838gs
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNoneNoneNone
DBSNP ID NA
1 combination linked to LRP2:c.2514_2517del, p.Gly838gs OLI924
1 disease linked to LRP2:c.2514_2517del, p.Gly838gs Transposition of the great arteries
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