Details for TRDMT1:c.266G>A, p.Gly89Asp

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
1720120917159210
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE TRDMT1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_004412.6
CDNA CHANGE c.266G>A
PROTEIN CHANGE p.Gly89Asp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.314037Disease causing
DBSNP ID NA
1 combination linked to TRDMT1:c.266G>A, p.Gly89Asp OLI737
1 disease linked to TRDMT1:c.266G>A, p.Gly89Asp Isolated anencephaly
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