Full data view for gene COL2A1

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

2 entries on 1 page. Showing entries 1 - 2.
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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     
+?/. 2 c.115C>T r.(?) p.(Gln39*) Unknown - likely pathogenic g.48393879G>A g.48000096G>A - - COL2A1_000491 - PubMed: Tompson 2017 - - Germline ? - - 0 - DNA SEQ-NG blood WES STL1 - - large family, 22 carriers, including 7 asymptomatic or pre-symptomatoc individuals at the time of their exam F no (United States) - - 0 - - 22 Mouna Barat-Houari
+?/. - c.115C>T r.(?) p.(Gln39*) Unknown - likely pathogenic g.48393879G>A g.48000096G>A - - COL2A1_000491 - PubMed: Stone 2017 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease 989 PubMed: Stone 2017 family, 13 affected M - (United States) - - 0 - - 13 LOVD
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