Variant #0000675144 (NC_000003.11:g.33138576A>G, NM_000404.2:c.2T>C (GLB1))

Individual ID 00307107
Chromosome 3
Allele Both (homozygous)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.33138576A>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID GLB1_000104
Variant remarks -
Reference Tebani et al. 2020, submitted
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Sarah Snanoudj
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Sarah Snanoudj
Date created 2020-07-31 15:02:40 +02:00 (CEST)
Date last edited 2020-08-03 13:01:27 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GLB1 NM_000404.2 ?/. 1 c.2T>C r.(?) p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000308249 DNA SEQ-NG-I - - GLB1 1 Sarah Snanoudj


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