Variant #0000873930 (NC_000003.11:g.33138549G>A, NM_000404.2:c.29C>T (GLB1))

Individual ID 00414706
Chromosome 3
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.33138549G>A
DNA change (hg38) g.33097057G>A
Published as GLB1 3:33113553 (hg18) het CM055955 70.2%
ISCN -
DB-ID GLB1_000001 See all 5 reported entries
Variant remarks non-causative, heterozygous
Reference PubMed: Bell 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.56764 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-08-02 11:28:48 +02:00 (CEST)
Date last edited 2024-06-05 16:39:41 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GLB1 NM_000404.2 -/. - c.29C>T r.(?) p.(Pro10Leu)
TMPPE NM_001039770.2 -/. - c.-447C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000415987 DNA;RNA SEQ-NG blood - HEXA 12 LOVD


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