Variant #0000000257 (NC_000016.9:g.88880897A>G, GALNS(NM_000512.4):c.1519T>C)

Individual ID 00000046
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.88880897A>G
Reference -
DB-ID GALNS_000016
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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.1519T>C r.(?) p.(Cys507Arg) likely pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000049 DNA SEQ-NG GALNS 1 Variome.ir