All variants in the COL1A2 gene


Osteogenesis Imperfecta Variant Database

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

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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     
-?/? 49 c.3442A>C r.(?) p.(Thr1148Pro) missense - - VUS g.94057113A>C - - - COL1A2_000131 - PubMed: Oliver et al., 1996 - rs1800250 Unknown - - - - - Raymond Dalgleish
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