Details for RELN:c.3712A>C, p.Asn1238His

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
103234329103593882
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE RELN
REFERENCE ALLELE T
ALTERNATE ALLELE G
TRANSCRIPT NM_005045.3
CDNA CHANGE c.3712A>C
PROTEIN CHANGE p.Asn1238His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00240.00.00.0020.00990.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0056040.05.8e-050.00.0057390.049620.0017420.0049236.538e-05

ESP
AAEA
0.00.0001163
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.179723Polymorphism
DBSNP ID rs114003896
2 combinations linked to RELN:c.3712A>C, p.Asn1238His OLI863; OLI905
2 diseases linked to RELN:c.3712A>C, p.Asn1238His Normosmic congenital hypogonadotropic hypogonadism; Kallmann syndrome
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