Variant #0000519041 (NC_000003.11:g.33114106G>A, GLB1(NM_000404.2):c.175C>T)

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.33114106G>A
DNA change (hg38) g.33072614G>A
Published as GLB1(NM_000404.2):c.175C>T (p.(Arg59Cys))
ISCN -
DB-ID GLB1_000013 See all 4 reported entries
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) 5.0E-5 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GLB1 NM_000404.2 +/. - c.175C>T r.(?) p.(Arg59Cys)
TMPPE NM_001039770.2 +/. - c.*20220C>T r.(=) p.(=)