Details for SLC3A1:p.Glu298_Asp539dup

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
NoneNone
VARIANT EFFECT insertion
ANNOTATION FLAG not_found_in_databases
GENE SLC3A1
REFERENCE ALLELE None
ALTERNATE ALLELE None
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Glu298_Asp539dup
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNoneNoneNone
DBSNP ID NA
1 combination linked to SLC3A1:p.Glu298_Asp539dup OLI180
1 disease linked to SLC3A1:p.Glu298_Asp539dup Cystinuria

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