Variant #0000787290 (NC_000003.11:g.33093390C>A, GLB1(NM_000404.2):c.899G>T)

Individual ID 00374745
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.33093390C>A
DNA change (hg38) g.33051898C>A
Published as -
ISCN -
DB-ID GLB1_000111
Variant remarks -
Reference PubMed: Ganapathy 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GLB1 NM_000404.2 ?/. 8 c.899G>T r.(?) p.(Gly300Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000375939 DNA SEQ-NG - TruSight One panel GLB1 1 Johan den Dunnen