Details for DTX1:c.1780G>A, p.Gly594Ser

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
113534661113096856
VARIANT EFFECT None
ANNOTATION FLAG None
GENE DTX1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.1780G>A
PROTEIN CHANGE p.Gly594Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.901517Disease causing
DBSNP ID NA
1 combination linked to DTX1:c.1780G>A, p.Gly594Ser OLI920
1 disease linked to DTX1:c.1780G>A, p.Gly594Ser Isolated spina bifida
Found any issues with the data on this page? Report this entry.