Details for NRP2:c.1333A>C, p.Ile445Leu

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
206607968205743244
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE NRP2
REFERENCE ALLELE A
ALTERNATE ALLELE C
TRANSCRIPT NM_201266.1
CDNA CHANGE c.1333A>C
PROTEIN CHANGE p.Ile445Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00.0020.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00041440.00.00.00.0056760.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.812013Polymorphism
DBSNP ID rs201900948
4 combinations linked to NRP2:c.1333A>C, p.Ile445Leu OLI856; OLI869; OLI893; OLI901
2 diseases linked to NRP2:c.1333A>C, p.Ile445Leu Normosmic congenital hypogonadotropic hypogonadism; Kallmann syndrome
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