Details for RELT:c.521T>G, p.Leu174Arg

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
7310340973392364
VARIANT EFFECT None
ANNOTATION FLAG None
GENE RELT
REFERENCE ALLELE T
ALTERNATE ALLELE G
TRANSCRIPT NM_032871.4
CDNA CHANGE c.521T>G
PROTEIN CHANGE p.Leu174Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.001452Polymorphism
DBSNP ID NA
1 combination linked to RELT:c.521T>G, p.Leu174Arg OLI1642
1 disease linked to RELT:c.521T>G, p.Leu174Arg Amelogenesis imperfecta

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