Variant #0000047260 (NC_000012.11:g.(?_48398104)_(48367189_?)del, COL2A1(NM_001844.4):c.(?_-181)_(*442_?))

Individual ID 00024471
Chromosome 12
Allele Parent #1
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.(?_48398104)_(48367189_?)del
DNA change (hg38) -
Published as del gene
ISCN -
DB-ID COL2A1_000327 See all 4 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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL2A1 NM_001844.4 +/. _1_54_ c.(?_-181)_(*442_?) r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000024463 DNA SEQ - - COL2A1 1 Isabelle Touitou