Variant #0000000254 (NC_000016.9:g.88901659G>A, GALNS(NM_000512.4):c.860C>T)

Individual ID 00000044
Chromosome 16
Allele Parent #1
Affects function (as reported) Not classified
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.88901659G>A
Reference -
DB-ID GALNS_000014 See all 6 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.860C>T r.(?) p.(Ser287Leu) pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000047 DNA SEQ-NG GALNS 2 Variome.ir