Details for NRP1:c.418A>C, p.Ile140Leu

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
3355961533270687
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE NRP1
REFERENCE ALLELE T
ALTERNATE ALLELE G
TRANSCRIPT NM_001024628.2
CDNA CHANGE c.418A>C
PROTEIN CHANGE p.Ile140Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00.0020.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00016580.00.00.00.00220.00.00.00016720.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign2.555019Polymorphism
DBSNP ID rs180868035
2 combinations linked to NRP1:c.418A>C, p.Ile140Leu OLI857; OLI913
2 diseases linked to NRP1:c.418A>C, p.Ile140Leu Normosmic congenital hypogonadotropic hypogonadism; Kallmann syndrome
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