Variant #0000499630 (NC_000003.11:g.33114120C>A, GLB1(NM_000404.2):c.161G>T)

Individual ID 00245721
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.33114120C>A
DNA change (hg38) g.33072628C>A
Published as p.S54I
ISCN -
DB-ID GLB1_000012
Variant remarks -
Reference PubMed: Higaki et al 2011
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
Database submission license No license selected
Created by Gerard C.P. Schaafsma
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GLB1 NM_000404.2 +/? 2 c.161G>T r.(?) p.(Ser54Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000246833 DNA SEQ - - GLB1 2 LOVD