Details for RELN:c.59C>T, p.Thr20Met

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
103629745103989298
VARIANT EFFECT None
ANNOTATION FLAG None
GENE RELN
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_005045
CDNA CHANGE c.59C>T
PROTEIN CHANGE p.Thr20Met
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00080.00.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
6.958e-050.0010452.913e-050.00.00.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.395893Polymorphism
DBSNP ID NA
1 combination linked to RELN:c.59C>T, p.Thr20Met OLI1469
1 disease linked to RELN:c.59C>T, p.Thr20Met Rare pervasive developmental disorder

Found any issues with the data on this page? Report this entry.