Details for RELN:c.7580C>A, p.Ser2527Tyr

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
103162557103522110
VARIANT EFFECT None
ANNOTATION FLAG None
GENE RELN
REFERENCE ALLELE G
ALTERNATE ALLELE T
TRANSCRIPT NM_005045
CDNA CHANGE c.7580C>A
PROTEIN CHANGE p.Ser2527Tyr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00060.00230.00.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00010340.0014765.782e-050.00.00.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.71368Polymorphism
DBSNP ID NA
1 combination linked to RELN:c.7580C>A, p.Ser2527Tyr OLI1468
1 disease linked to RELN:c.7580C>A, p.Ser2527Tyr Rare pervasive developmental disorder

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