Variant #0000000316 (NC_000016.9:g.88907400_88909237del, GALNS(NM_000512.4):c.121_422del)

Individual ID 00000100
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.88907400_88909237del
Reference -
DB-ID GALNS_000029
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.121_422del r.(?) p.(Met41Alafs*16) pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000103 DNA SEQ-NG GALNS 1 Variome.ir