Variant #0000000481 (NC_000016.9:g.88907448G>A, GALNS(NM_000512.4):c.374C>T)

Individual ID 00000254
Chromosome 16
Allele Both (homozygous)
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.88907448G>A
Reference -
DB-ID GALNS_000039 See all 2 reported entries
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Variome.ir
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Variome.ir
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Clinical classification     
GALNS NM_000512.4 ./. - c.374C>T r.(?) p.(Pro125Leu) pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000257 DNA SEQ-NG GALNS 1 Variome.ir