Variant #0000000438 (NC_000016.9:g.88893207T>C, GALNS(NM_000512.4):c.1042A>G)

Individual ID 00000214
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.88893207T>C
Reference -
DB-ID GALNS_000042 See all 4 reported entries
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.1042A>G r.(?) p.(Thr348Ala) likely pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000217 DNA SEQ-NG GALNS 1 Variome.ir