Details for PLXNA1:c.1485C>A, p.Asn495Lys

CHROMOSOME 3
GENOMIC COORDINATES
hg19hg38
126722280127003437
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE PLXNA1
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_032242.3
CDNA CHANGE c.1485C>A
PROTEIN CHANGE p.Asn495Lys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign2.645003Polymorphism
DBSNP ID rs2079050702
1 combination linked to PLXNA1:c.1485C>A, p.Asn495Lys OLI874
1 disease linked to PLXNA1:c.1485C>A, p.Asn495Lys Kallmann syndrome
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