Variant #0000821008 (NC_000012.11:g.48393830_48393831del, COL2A1(NM_001844.4):c.166_167del)

Individual ID 00390031
Chromosome 12
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.48393830_48393831del
DNA change (hg38) g.48000047_48000048del
Published as COL2A1 c.166_167delGT, p.Val56fs
ISCN -
DB-ID COL2A1_000058 See all 5 reported entries
Variant remarks heterozygous
Reference PubMed: Liu 2020
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation ?
Frequency 1/64
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
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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     
0000391272 DNA SEQ-NG-I blood 326 selected genes from whole exome sequencing COL2A1 1 LOVD