Full data view for gene COL1A2


Osteogenesis Imperfecta Variant Database

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

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predicted     

Legacy protein change     

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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 6i c.279+1G>A r.spl p.? splicing affected? - Unknown - pathogenic g.94030933G>A - - - COL1A2_000228 - PubMed: Weil et al., 1990 - rs67398234 Unknown - - - - - DNA, RNA PCR, RT-PCR, SEQ - - EDS, EDSARTH2 - PubMed: Weil et al., 1990 Skips exon 6. - - - - - - - - 1 Raymond Dalgleish
+/+ 6i c.279+1G>A r.spl p.? splicing affected? - Unknown - pathogenic g.94030933G>A - - - COL1A2_000228 - PubMed: Vasan et al., 1991 - rs67398234 Unknown - - - - - DNA, RNA PCR, RT-PCR, NUC, SEQ - - EDS, EDSARTH2 - PubMed: Vasan et al., 1991 Skips exon 6.The technique used was S1 nuclease. - - - - - - - - 1 Raymond Dalgleish
+/+ 6i c.279+1G>A r.spl p.? splicing affected? - Unknown - pathogenic g.94030933G>A - - - COL1A2_000228 - PubMed: Nicholls et al., 1991 - rs67398234 Unknown - - - - - DNA, RNA PCR, SEQ - - EDS, EDSARTH2 - PubMed: Nicholls et al., 1991 Skips exon 6. - - - - - - - - 1 Raymond Dalgleish
+/+ 6i c.279+1G>A r.spl p.? splicing affected? - Maternal (inferred) - pathogenic g.94030933G>A - - - COL1A2_000228 - PubMed: Watson et al., 1992 - rs67398234 Unknown - - - - - DNA, RNA PCR, RT-PCR, SEQ - - EDS, EDSARTH2 - PubMed: Watson et al., 1992 Skips exon 6. The clinical details of the proband and members of her family were previously described by {PMID3621666:Viljoen et al., 1987}. - - - - - - - - 1 Peter Byers
+/+ 6i c.279+1G>A r.spl p.? splicing affected? - Unknown - pathogenic g.94030933G>A - - - COL1A2_000228 - PubMed: Lehmann et al., 1994 - rs67398234 Unknown - - - - - DNA, RNA PCR, RT-PCR, SEQ - - EDS, EDSARTH2 - PubMed: Lehmann et al., 1994 Skips exon 6. - - - - - - - - 1 Raymond Dalgleish
+/+ 6i c.279+1G>A r.spl p.? splicing affected? - Unknown - pathogenic g.94030933G>A - - - COL1A2_000228 - PubMed: Giunta et al., 1999 - rs67398234 Unknown - - - - - DNA, RNA PCR, RT-PCR, SEQ - - EDS, EDSARTH2 - PubMed: Giunta et al., 1999 Skips exon 6. - - - - - - - - 1 Raymond Dalgleish
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