Details for PLXNB1:c.1126C>T, p.Pro376Ser

CHROMOSOME 3
GENOMIC COORDINATES
hg19hg38
4846433848422929
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE PLXNB1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_001130082.2
CDNA CHANGE c.1126C>T
PROTEIN CHANGE p.Pro376Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0020.00.00.00990.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00056190.02.895e-050.00.0076140.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging4.016374Disease causing
DBSNP ID rs200514394
2 combinations linked to PLXNB1:c.1126C>T, p.Pro376Ser OLI888; OLI889
2 diseases linked to PLXNB1:c.1126C>T, p.Pro376Ser Normosmic congenital hypogonadotropic hypogonadism; Kallmann syndrome
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