Variant #0000519044 (NC_000003.11:g.33138501dup, GLB1(NM_000404.2):c.75+2dup)

Chromosome 3
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.33138501dup
DNA change (hg38) g.33097009dup
Published as GLB1(NM_001317040.1):c.75+2dupT
ISCN -
DB-ID GLB1_000078
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GLB1 NM_000404.2 +?/. - c.75+2dup r.spl? p.?
TMPPE NM_001039770.2 +?/. - c.-399dup r.(?) p.(=)