Full data view for gene COL2A1

Information The variants shown are described using the NM_001844.4 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. _1_54_ c.(?_-181)_(*442_?) r.spl p.? Parent #1 - pathogenic g.(?_48398104)_(48367189_?)del - del gene - COL2A1_000327 - PubMed: Hoornaert 2010 - - Unknown - - - 0 - DNA SEQ - - STL1 - PubMed: Hoornaert 2010 - - - ? (unknown) - - 0 - - 1 Isabelle Touitou
+/. _1_54_ c.(?_-181)_(*442_?) r.0 p.0 Unknown - pathogenic g.(?_48398104)_(48367189_?)del - Del exons 1-54 Gene deletion - COL2A1_000327 - PubMed: Richards 2010 - - Unknown - - - 0 - DNA SEQ - - STL1 - - - - ? (United Kingdom (Great Britain)) - - 0 - - 1 Isabelle Touitou
+/. _1_54_ c.(?_-181)_(*442_?) r.0 p.0 Unknown - pathogenic g.(?_48398104)_(48367189_?)del - Del exons 1-54 Gene deletion - COL2A1_000327 - PubMed: Richards 2010 - - Unknown - - - 0 - DNA SEQ - - STL1 - - - - ? (United Kingdom (Great Britain)) - - 0 - - 1 Isabelle Touitou
+/. _1_54_ c.(?_-181)_(*442_?) r.0 p.0 Unknown - pathogenic g.(?_48398104)_(48367189_?)del - - - COL2A1_000327 - - - - Unknown - - - 0 - DNA SEQ - - STL1 - - - M - (France) - - 0 - - 1 Isabelle Touitou
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