Variant #0000651175 (NC_000003.11:g.33038802C>T, GLB1(NM_000404.2):c.1769G>A)

Individual ID 00293318
Chromosome 3
Allele Parent #1
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.33038802C>T
DNA change (hg38) g.32997310C>T
Published as -
ISCN -
DB-ID GLB1_000085
Variant remarks conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs398123351
Origin Germline
Segregation -
Frequency 1/2794 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GLB1 NM_000404.2 ?/. - c.1769G>A r.(?) p.(Arg590His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000294486 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq