Details for AXL:c.1619A>G, p.Lys540Arg

CHROMOSOME 19
GENOMIC COORDINATES
hg19hg38
4175450041248595
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE AXL
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_021913.4
CDNA CHANGE c.1619A>G
PROTEIN CHANGE p.Lys540Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.24905Disease causing
DBSNP ID NA
1 combination linked to AXL:c.1619A>G, p.Lys540Arg OLI883
1 disease linked to AXL:c.1619A>G, p.Lys540Arg Kallmann syndrome
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