Details for DIP2C:c.757C>T, p.Arg253Trp

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
461811415871
VARIANT EFFECT None
ANNOTATION FLAG None
GENE DIP2C
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.757C>T
PROTEIN CHANGE p.Arg253Trp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.420771Polymorphism
DBSNP ID NA
1 combination linked to DIP2C:c.757C>T, p.Arg253Trp OLI932
1 disease linked to DIP2C:c.757C>T, p.Arg253Trp Rare pervasive developmental disorder

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