Details for CNTN2:c.1075C>A, p.Arg359Ser

CHROMOSOME 1
GENOMIC COORDINATES
hg19hg38
205031094205061966
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE CNTN2
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_001346083.1
CDNA CHANGE c.1075C>A
PROTEIN CHANGE p.Arg359Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00080.00.00.00.00.0041

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00073030.00012860.00.00.00087530.07.163e-050.00016570.005055

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.963809Polymorphism
DBSNP ID rs371816961
1 combination linked to CNTN2:c.1075C>A, p.Arg359Ser OLI851
1 disease linked to CNTN2:c.1075C>A, p.Arg359Ser Normosmic congenital hypogonadotropic hypogonadism

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