Variant #0000683123 (NC_000003.11:g.33099691C>G, GLB1(NM_000404.2):c.623G>C)

Individual ID 00307573
Chromosome 3
Allele Both (homozygous)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.33099691C>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID GLB1_000107
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) Variant not found in online data sets
Owner Sarah Snanoudj
Database submission license No license selected
Created by Sarah Snanoudj
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GLB1 NM_000404.2 ?/. 6 c.623G>C r.(?) p.(Arg208Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000308713 DNA SEQ-NG-I - - GLB1 1 Sarah Snanoudj