Genomic variant #0000499641

Individual ID 00245719
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.33109737G>A
DNA change (hg38) g.33068245G>A
Published as p.R148C
ISCN -
DB-ID GLB1_000003
Variant remarks -
Reference PubMed: Nishimoto et al 1991
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner -
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GLB1 NM_000404.2 +/? 4 c.442C>T r.(?) p.(Arg148Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000246831 DNA SEQ - - GLB1 2 -