Details for NRP2:c.1406G>A, p.Ser469Asn

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
206608041205743317
VARIANT EFFECT None
ANNOTATION FLAG None
GENE NRP2
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.1406G>A
PROTEIN CHANGE p.Ser469Asn
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
3.99e-060.00.00.00.00.08.822e-060.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedDamaging3.262018Polymorphism
DBSNP ID NA
1 combination linked to NRP2:c.1406G>A, p.Ser469Asn OLI1321
1 disease linked to NRP2:c.1406G>A, p.Ser469Asn Kallmann syndrome

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