Variant #0000733018 (NC_000012.11:g.48393879G>A, COL2A1(NM_001844.4):c.115C>T)

Individual ID 00333785
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.48393879G>A
DNA change (hg38) g.48000096G>A
Published as -
ISCN -
DB-ID COL2A1_000491 See all 2 reported entries
Variant remarks -
Reference PubMed: Stone 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
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-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL2A1 NM_001844.4 +?/. - c.115C>T r.(?) p.(Gln39*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000335011 DNA SEQ-NG - - COL2A1 1 LOVD