Variant #0000000351 (NC_000016.9:g.88909219C>T, GALNS(NM_000512.4):c.139G>A)

Individual ID 00000133
Chromosome 16
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.88909219C>T
Reference -
DB-ID GALNS_000038 See all 2 reported entries
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Variome.ir
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Variome.ir
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Clinical classification     
GALNS NM_000512.4 +/+ - c.139G>A r.(?) p.(Gly47Arg) pathogenic
GALNS XM_005256301.1 +/+ - c.139G>A r.(?) p.(Gly47Arg) pathogenic
GALNS XM_005256302.1 +/+ - c.157G>A r.(?) p.(Gly53Arg) pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000136 DNA SEQ GALNS 1 Variome.ir