Details for NGLY1:c.731G>A, p.Trp244Ter

CHROMOSOME 3
GENOMIC COORDINATES
hg19hg38
2578121825739727
VARIANT EFFECT None
ANNOTATION FLAG None
GENE NGLY1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_018297
CDNA CHANGE c.731G>A
PROTEIN CHANGE p.Trp244Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone8.42223Disease causing
DBSNP ID NA
1 combination linked to NGLY1:c.731G>A, p.Trp244Ter OLI1569
1 disease linked to NGLY1:c.731G>A, p.Trp244Ter Syndrome with 46,XY disorder of sex development
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