Details for RELN:c.5618C>T, p.Thr1873Ile

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
103197603103557156
VARIANT EFFECT None
ANNOTATION FLAG None
GENE RELN
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_005045
CDNA CHANGE c.5618C>T
PROTEIN CHANGE p.Thr1873Ile
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00260.00.00140.00.00.0123

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0040890.00024620.00098390.0083475.447e-050.00083270.0035280.005070.01483

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.524093Polymorphism
DBSNP ID NA
1 combination linked to RELN:c.5618C>T, p.Thr1873Ile OLI1462
1 disease linked to RELN:c.5618C>T, p.Thr1873Ile Rare pervasive developmental disorder

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