Variant #0000281055 (NC_000003.11:g.33114105C>T, GLB1(NM_000404.2):c.176G>A)

Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.33114105C>T
DNA change (hg38) g.33072613C>T
Published as GLB1(NM_000404.3):c.176G>A (p.R59H)
ISCN -
DB-ID GLB1_000005 See all 5 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GLB1 NM_000404.2 +/. - c.176G>A r.(?) p.(Arg59His)
TMPPE NM_001039770.2 +/. - c.*20221G>A r.(=) p.(=)