Full data view for gene COL1A1


Osteogenesis Imperfecta Variant Database

Information The variants shown are described using the NM_000088.3 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.3076C>T r.(?) p.(Arg1026Ter) - - Unknown - pathogenic g.48266126G>A g.50188765G>A COL1A1(NM_000088.3):c.3076C>T (p.R1026*) - COL1A1_000244 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 43 c.3076C>T r.(?) p.(Arg1026*) nonsense Arg848Stop Unknown - pathogenic g.48266126G>A g.50188765G>A - - COL1A1_000244 - PubMed: Ries et al., 2000 - rs72653173 Unknown - - - - - DNA DGGE, SEQ - - OI, OI1 - PubMed: Ries et al., 2000 - - - - - - - - - 1 Raymond Dalgleish
+/+ 43 c.3076C>T r.(?) p.(Arg1026*) nonsense Arg848Stop Unknown - pathogenic g.48266126G>A g.50188765G>A - - COL1A1_000244 - PubMed: Ries-Levavi et al., 2004 - rs72653173 Unknown - - - - - DNA DGGE, SEQ - - OI, OI1 - PubMed: Ries-Levavi et al., 2004 - - - - - - - - - 1 Peter Byers
+/+ 43 c.3076C>T r.(?) p.(Arg1026*) nonsense Arg848Stop Unknown - pathogenic g.48266126G>A g.50188765G>A - - COL1A1_000244 - PubMed: Ries-Levavi et al., 2004 - rs72653173 Unknown - - - - - DNA DGGE, SEQ - - OI, OI1 - PubMed: Ries-Levavi et al., 2004 - - - - - - - - - 1 Peter Byers
+/+ 43 c.3076C>T r.(?) p.(Arg1026*) nonsense Arg848Stop Unknown - pathogenic g.48266126G>A g.50188765G>A - - COL1A1_000244 - PubMed: Hartikka et al., 2004 - rs72653173 Unknown - - - - - DNA CSGE, SEQ - - OI, OI1 - PubMed: Hartikka et al., 2004 - - - - - - - - - 1 Raymond Dalgleish
+/+ 43 c.3076C>T r.(?) p.(Arg1026*) nonsense Arg848Stop Unknown - pathogenic g.48266126G>A g.50188765G>A - - COL1A1_000244 - PubMed: Hartikka et al., 2004 - rs72653173 Unknown - - - - - DNA CSGE, SEQ - - OI, OI1 - PubMed: Hartikka et al., 2004 - - - - - - - - - 1 Raymond Dalgleish
+/+ 43 c.3076C>T r.(?) p.(Arg1026*) nonsense Arg848Stop Unknown - pathogenic g.48266126G>A g.50188765G>A - - COL1A1_000244 - - - rs72653173 Unknown - - - - - DNA SEQ - - OI, OI1 - - - - - - - - - - - 1 Isabel Mandy Nesbitt
+/+ 43 c.3076C>T r.(?) p.(Arg1026*) nonsense Arg848Stop Unknown - pathogenic g.48266126G>A g.50188765G>A - - COL1A1_000244 - PubMed: Gentile et al., 2013 - rs72653173 Unknown - - - - - DNA DHPLC, SEQ - - OI, OI1 - PubMed: Gentile et al., 2013 - - - - - - - - - 1 Margherita Maioli
+/+ 43 c.3076C>T r.(?) p.(Arg1026*) nonsense Arg848Stop Unknown - pathogenic g.48266126G>A g.50188765G>A - - COL1A1_000244 - PubMed: Zhang et al., 2011 - rs72653173 Unknown - - - - - DNA PCR, SEQ - - OI, OI1 - PubMed: Zhang et al., 2011 - - - - Han Chinese - - - - 1 Raymond Dalgleish
+/+ 43 c.3076C>T r.(?) p.(Arg1026*) nonsense Arg848Stop Unknown - pathogenic g.48266126G>A g.50188765G>A - - COL1A1_000244 - PubMed: Zhang et al., 2011 - rs72653173 Unknown - - - - - DNA PCR, SEQ - - OI, OI1 - PubMed: Zhang et al., 2011 - - - - Han Chinese - - - - 1 Raymond Dalgleish
+/+ 43 c.3076C>T r.(?) p.(Arg1026*) nonsense Arg848Stop Unknown - pathogenic g.48266126G>A g.50188765G>A - - COL1A1_000244 - PubMed: Niramitmahapanya et al., 2013 - rs72653173 Unknown - - - - - DNA PCR, SEQ - - OI, OI1 - PubMed: Niramitmahapanya et al., 2013 The DNA-level variant description is incorrectly reported as c.3202C>T which appears to be based on counting from the start of the transcript. - - - Thai - - - - 1 Raymond Dalgleish
+/+ 43 c.3076C>T r.(?) p.(Arg1026*) nonsense Arg848Stop Unknown - pathogenic g.48266126G>A g.50188765G>A - - COL1A1_000244 - PubMed: Lin et al., 2015 - rs72653173 Unknown - - - - - DNA PCR, SEQ - - OI, OI1 - PubMed: Lin et al., 2015 - - - - Taiwanese - - - - 1 Raymond Dalgleish
+/+ 43 c.3076C>T r.(?) p.(Arg1026*) nonsense Arg848Stop Unknown - pathogenic g.48266126G>A g.50188765G>A - - COL1A1_000244 - PubMed: Kaneto et al., 2014 - rs72653173 Unknown - - - - - DNA PCR, SEQ - - OI, OI1 - PubMed: Kaneto et al., 2014 - - - - - - - - - 1 Raymond Dalgleish
+/+ 43 c.3076C>T r.(?) p.(Arg1026*) nonsense Arg848Stop Paternal (inferred) - pathogenic g.48266126G>A g.50188765G>A - - COL1A1_000244 - PubMed: Duan et al., 2016 - rs72653173 Unknown - - - - - DNA PCR, SEQ - - OI, OI1 - PubMed: Duan et al., 2016 The phenotype is described as Van der Hoeve syndrome. - - - Chinese - - - - 1 Raymond Dalgleish
+/+ 43 c.3076C>T r.(?) p.(Arg1026*) nonsense Arg848Stop Unknown - pathogenic g.48266126G>A g.50188765G>A - - COL1A1_000244 - - - rs72653173 Unknown - - - - - DNA MCA, SEQ - - OI, OI1 - - - - - - - - - - - 1 Margherita Maioli
+/+ 43 c.3076C>T r.(?) p.(Arg1026*) nonsense Arg848Stop Unknown - pathogenic g.48266126G>A g.50188765G>A - - COL1A1_000244 - PubMed: Li 2019, Journal: Li 2019 - rs72653173 Unknown - - - - - DNA PCR, SEQ - - OI, OI1 PUMC-84 PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/? 43 c.3076C>T r.? p.(Arg1026*) nonsense Arg848Stop Unknown - VUS g.48266126G>A - - - COL1A1_000244 - PubMed: Li 2019, Journal: Li 2019 - rs72653173 Unknown - - - - - DNA PCR, SEQ - - OI, OI4 PUMC-238 PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/+ 43 c.3076C>T r.? p.(Arg1026*) nonsense Arg848Stop Unknown - VUS g.48266126G>A - - - COL1A1_000244 - PubMed: Zhang et al., 2017 - rs72653173 Unknown - - - - - DNA SEQ - - - - - - - - - - - - - - - -
+/? 43 c.3076C>T r.(?) p.(Arg1026*) nonsense Arg848Stop Paternal (inferred) - VUS g.48266126G>A g.50188765G>A - - COL1A1_000244 - PubMed: Zhytnik 2019 - rs72653173 Germline - - - - - DNA PCR, SEQ - - OI, OI1 UA50 PubMed: Zhytnik 2019 - - - Ukraine - - - - - 1 Lidiia Zhytnik
+/. 42 c.3076C>T r.(?) p.(Arg1026Ter) - - Unknown - pathogenic (dominant) g.48266126G>A g.50188765G>A - - COL1A1_000244 Nonsense variants are a known pathogenic mechanism in COL1A1 - - rs72653173 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 42 c.3076C>T r.(?) p.(Arg1026Ter) - - Unknown - pathogenic g.48266126G>A g.50188765G>A - - COL1A1_000244 - - - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG blood - OI - - - - - Italy - - - - - 1 Lucia Micale
+/. 42 c.3076C>T r.(?) p.(Arg1026Ter) - - Unknown ACMG pathogenic (dominant) g.48266126G>A g.50188765G>A - - COL1A1_000244 - PubMed: Yamaguti 2023, Journal: Yamaguti 2023 - - Germline - - - - - DNA SEQ-NG - - OI FR2022-21 PubMed: Yamaguti 2023, Journal: Yamaguti 2023 - M - France - - - - - 1 Juliana Mazzeu
+/. - c.3076C>T r.(?) p.(Arg1026*) nonsense - Unknown - pathogenic g.48266126G>A - - - COL1A1_000244 - PubMed: Nadyrshina 2022 - - De novo - - - - - DNA SEQ-NG whole venous blood - OI1 Pat19 PubMed: Nadyrshina 2022 - M ? Russia Tatar ethnicity >09y - - - 1 Kim Worring
+/. - c.3076C>T r.(?) p.(Arg1026*) nonsense - Unknown - pathogenic g.48266126G>A - - - COL1A1_000244 - PubMed: Nadyrshina 2022 - - Unknown - - - - - DNA SEQ-NG whole venous blood - OI1 Pat20 PubMed: Nadyrshina 2022 - M ? Russia Tatar ethnicity >17y - - - 1 Kim Worring
+/. - c.3076C>T r.(?) p.(Arg1026Ter) - - Unknown - pathogenic g.48266126G>A g.50188765G>A - - COL1A1_000244 ACMG PM2, PP3, BP1 PubMed: Tuysuz 2022 VCV000035920.10 - De novo - - - - - DNA SEQ, SEQ-NG - gene panel OI Pat39 PubMed: Tuysuz 2022 - - - Turkey - - - - - 1 Johan den Dunnen
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