Variant #0000047357 (NC_000012.11:g.48393761_48393783dup, COL2A1(NM_001844.4):c.211_233dup)

Individual ID 00024566
Chromosome 12
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.48393761_48393783dup
DNA change (hg38) g.47999978_48000000dup
Published as -
ISCN -
DB-ID COL2A1_000278 See all 2 reported entries
Variant remarks -
Reference PubMed: Hoornaert 2010
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Isabelle Touitou
Database submission license No license selected
Created by Isabelle Touitou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL2A1 NM_001844.4 +/+ 2 c.211_233dup r.(?) p.(Glu79Thrfs*2)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000024558 DNA;RNA CSCE;DHPLC;SEQ;SSCA - - COL2A1 1 Isabelle Touitou