Variant #0000405995 (NC_000012.11:g.48393830_48393831del, COL2A1(NM_001844.4):c.166_167del)

Individual ID 00181200
Chromosome 12
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.48393830_48393831del
DNA change (hg38) g.48000047_48000048del
Published as -
ISCN -
DB-ID COL2A1_000058 See all 5 reported entries
Variant remarks -
Reference -
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 Nicole Van Gundy
Database submission license No license selected
Created by Nicole Van Gundy
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL2A1 NM_001844.4 +/. - c.166_167del r.(?) p.(Val56Leufs*2)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000182158 DNA ? - - COL2A1 1 Nicole Van Gundy