Variant #0000674892 (NC_000003.11:g.33055705C>T, GLB1(NM_000404.2):c.1577G>A)

Individual ID 00306914
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.33055705C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID GLB1_000097
Variant remarks -
Reference Tebani et al. 2020, submitted
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00119 View details
Owner Sarah Snanoudj
Database submission license No license selected
Created by Sarah Snanoudj
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GLB1 NM_000404.2 ?/. 15 c.1577G>A r.(?) p.(Gly526Asp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000308051 DNA SEQ-NG-I blood - GLB1 1 Sarah Snanoudj