Variant #0000000223 (NC_000016.9:g.88898492A>C, GALNS(NM_000512.4):c.916T>G)

Individual ID 00000017
Chromosome 16
Allele Both (homozygous)
Affects function (as reported) Not classified
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.88898492A>C
Reference -
DB-ID GALNS_000004
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.916T>G r.(?) p.(Phe306Val) likely pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000019 DNA SEQ-NG GALNS 1 Variome.ir