All variants in the COL1A2 gene


Osteogenesis Imperfecta Variant Database

Information The variants shown are described using the NM_000089.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predicted     

Legacy protein change     

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     

Owner     
+/+ 50 c.3601G>T r.(?) p.(Glu1201*) nonsense - - pathogenic g.94057679G>T - - - COL1A2_000238 - PubMed: Schwarze et al., 2004 - rs72659343 Unknown - - - - - Peter Byers
+/. 50 c.3601G>T r.(?) p.(Glu1201Ter) - - - pathogenic g.94057679G>T g.94428367G>T - - COL1A2_000238 - - - - Germline - - - - - Lucia Micale
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