Details for AXL:c.1579C>T, p.Arg527Trp

CHROMOSOME 19
GENOMIC COORDINATES
hg19hg38
4175446041248555
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE AXL
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_021913.4
CDNA CHANGE c.1579C>T
PROTEIN CHANGE p.Arg527Trp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.193e-050.00.00.00.00.02.639e-050.00.0

ESP
AAEA
0.00.0001163
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.918224Polymorphism
DBSNP ID rs374709166
1 combination linked to AXL:c.1579C>T, p.Arg527Trp OLI845
1 disease linked to AXL:c.1579C>T, p.Arg527Trp Kallmann syndrome
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