Variant #0000000215 (NC_000003.11:g.33058334T>C, GLB1(NM_000404.2):c.1348-2A>G)

Individual ID 00000010
Chromosome 3
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.33058334T>C
Reference -
DB-ID GLB1_000002
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     
GLB1 NM_000404.2 +/+ - c.1348-2A>G r.spl? p.? pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000011 DNA SEQ-NG GLB1 1 Variome.ir