Full data view for gene COL1A1


Osteogenesis Imperfecta Variant Database

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

55 entries on 1 page. Showing entries 1 - 55.
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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     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ - c.2299G>A r.(?) p.(Gly767Ser) - - Unknown ACMG pathogenic (dominant) g.48268222C>T g.50190861C>T - - COL1A1_000118 ACMG PS1 PS3 PM6 PubMed: Higuchi 2021, Journal: Higuchi 2021 - - Germline - - - - - DNA SEQ - - OI - PubMed: Higuchi 2021, Journal: Higuchi 2021 - F - Japan Japanese - - - - 1 Yousuke Higuchi
+/. - c.2299G>A r.(?) p.(Gly767Ser) - - Parent #1 - pathogenic (dominant) g.48268222C>T g.50190861C>T - - COL1A1_000118 - PubMed: Liu 2017 - - Germline - 1/101 cases OI - - - DNA SEQ-NG - targeted 14-gene panel OI OI Fam50 PubMed: Liu 2017 analysis 101 unrelated OI families M - China - - - - - 1 Johan den Dunnen
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - PubMed: Marini et al., 2007 (Byers, personal communication) - rs72651658 Unknown - - - - - ? ? - - OI, OI3 - PubMed: Marini et al., 2007 (Byers, personal communication) - - - - - - - - - 1 Peter Byers
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - PubMed: Marini et al., 2007 (Byers, personal communication) - rs72651658 Unknown - - - - - ? ? - - OI, OI3 - PubMed: Marini et al., 2007 (Byers, personal communication) - - - - - - - - - 1 Peter Byers
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - PubMed: Marini et al., 2007 (Hyland and Prockop, personal communication) - rs72651658 Unknown - - - - - ? ? - - OI, OI3 - PubMed: Marini et al., 2007 (Hyland and Prockop, personal communication) - - - - - - - - - 1 Raymond Dalgleish
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - PubMed: Marini et al., 2007 (Körkkö and Prockop, personal communication) - rs72651658 Unknown - - - - - ? ? - - OI, OI3 - PubMed: Marini et al., 2007 (Körkkö and Prockop, personal communication) - - - - - - - - - 1 Raymond Dalgleish
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - PubMed: Marini et al., 2007 (Hyland and Prockop, personal communication) - rs72651658 Unknown - - - - - ? ? - - OI, OI3 - PubMed: Marini et al., 2007 (Hyland and Prockop, personal communication) - - - - - - - - - 1 Raymond Dalgleish
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - PubMed: Marini et al., 2007 (Hyland and Prockop, personal communication) - rs72651658 Unknown - - - - - ? ? - - OI, OI3 - PubMed: Marini et al., 2007 (Hyland and Prockop, personal communication) - - - - - - - - - 1 Raymond Dalgleish
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - PubMed: Marini et al., 2007 (Lund, personal communication) - rs72651658 Unknown - - - - - ? ? - - OI, OI3 - PubMed: Marini et al., 2007 (Lund, personal communication) - - - - - - - - - 1 Raymond Dalgleish
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - PubMed: Marini et al., 2007 (Lund, personal communication) - rs72651658 Unknown - - - - - ? ? - - OI, OI3 - PubMed: Marini et al., 2007 (Lund, personal communication) - - - - - - - - - 1 Raymond Dalgleish
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - PubMed: Marini et al., 2007 (Marini and Moriarty, personal communication) - rs72651658 Unknown - - - - - ? ? - - OI, OI3, OI4 - PubMed: Marini et al., 2007 (Marini and Moriarty, personal communication) - - - - - - - - - 1 Raymond Dalgleish
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - PubMed: Marini et al., 2007 (Marini and Moriarty, personal communication) - rs72651658 Unknown - - - - - ? ? - - OI, OI4 - PubMed: Marini et al., 2007 (Marini and Moriarty, personal communication) - - - - - - - - - 1 Raymond Dalgleish
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - PubMed: Marini et al., 2007 (Marini and Moriarty, personal communication) - rs72651658 Unknown - - - - - ? ? - - OI, OI3, OI4 - PubMed: Marini et al., 2007 (Marini and Moriarty, personal communication) - - - - - - - - - 1 Raymond Dalgleish
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - PubMed: Forlino et al., 1994 - rs72651658 Unknown - - - - - RNA SEQ, CMC - - OI, OI3 - PubMed: Forlino et al., 1994 - - - - - - - - - 1 Raymond Dalgleish
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - PubMed: Zhuang et al., 1996 - rs72651658 Unknown - - - - - RNA SEQ - - OI, OI3, OI4 - PubMed: Zhuang et al., 1996 The patient was described in the paper as OI IV(?). - - - - - - - - 1 Raymond Dalgleish
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - PubMed: Lund et al., 1997 - rs72651658 Unknown - - - - - RNA SEQ - - OI, OI3 - PubMed: Lund et al., 1997 - - - - - - - - - 1 Raymond Dalgleish
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - PubMed: Ries-Levavi et al., 2004 - rs72651658 Unknown - - - - - DNA DGGE, SEQ - - OI, OI3 - PubMed: Ries-Levavi et al., 2004 - - - - - - - - - 1 Peter Byers
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - PubMed: Hartikka et al., 2004 - rs72651658 Unknown - - - - - DNA CSGE, SEQ - - OI, OI3 - PubMed: Hartikka et al., 2004 - - - - - - - - - 1 Raymond Dalgleish
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - PubMed: Lee et al., 2006 - rs72651658 Unknown - - - - - DNA SEQ - - OI, OI3 - PubMed: Lee et al., 2006 - - - - - - - - - 1 Raymond Dalgleish
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - - - rs72651658 Unknown - - - - - DNA DHPLC, SEQ - - OI, OI4 - - - - - - - - - - - 1 Margherita Maioli
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - - - rs72651658 Unknown - - - - - DNA SEQ - - OI, OI3 - - - - - - white - - - - 1 Peter Roughley
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - PubMed: Gentile et al., 2013 - rs72651658 Unknown - - - - - DNA DHPLC, SEQ - - OI, OI4 - PubMed: Gentile et al., 2013 - - - - - - - - - 1 Margherita Maioli
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - PubMed: Zhang et al., 2011 - rs72651658 Unknown - - - - - DNA PCR, SEQ - - OI, OI3 - PubMed: Zhang et al., 2011 - - - - Han Chinese - - - - 1 Raymond Dalgleish
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - PubMed: Zhang et al., 2011 - rs72651658 Unknown - - - - - DNA PCR, SEQ - - OI, OI3 - PubMed: Zhang et al., 2011 - - - - Han Chinese - - - - 1 Raymond Dalgleish
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - PubMed: Zhang et al., 2011 - rs72651658 Unknown - - - - - DNA PCR, SEQ - - OI, OI3 - PubMed: Zhang et al., 2011 - - - - Han Chinese - - - - 1 Raymond Dalgleish
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - PubMed: Zhang et al., 2011 - rs72651658 Unknown - - - - - DNA PCR, SEQ - - OI, OI3 - PubMed: Zhang et al., 2011 - - - - Han Chinese - - - - 1 Raymond Dalgleish
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - - - rs72651658 Unknown - - - - - DNA PCR, SEQ - - OI, OI4 - - - - - - - - - - - 1 Yanqin Lu
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - PubMed: Stephen et al., 2014 - rs72651658 Unknown - - - - - DNA PCR, SEQ - - OI, OI3 - PubMed: Stephen et al., 2014 do novo mutation - - - - - - - - 1 Raymond Dalgleish
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - PubMed: Rauch et al., 2014 - rs72651658 Unknown - - - - - DNA PCRm, SEQ - - OI, OI4 - PubMed: Rauch et al., 2014 - - - - - - - - - 1 Raymond Dalgleish
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - - - rs72651658 Unknown - - - - - DNA MCA, PCR, SEQ - - OI, OI3 - - - - - - Chinese Han - - - - 1 Xue Bai
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Maternal (confirmed) - VUS g.48268222C>T - - - COL1A1_000118 - - - rs72651658 Unknown - - - - - DNA MCA, PCR, SEQ - - - - - - - - - - - - - - - -
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - PubMed: Zhang 2015 - rs72651658 Unknown - - - - - DNA SEQ-NG - - OI, OI1 - PubMed: Zhang 2015 The technique used was the custom NGS Gene panel. - - - Chinese - - - - 1 Raymond Dalgleish
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - PubMed: Mauri et al., 2016 - rs72651658 Unknown - - - - - DNA PCR, SEQ - - OI - PubMed: Mauri et al., 2016 The patient has juvenile open angle glaucoma/primary open angle glaucoma. - - - American - - - - 1 Raymond Dalgleish
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - PubMed: Caparros-Martin et al., 2016 - rs72651658 Unknown - - - - - DNA PCR, SEQ, SEQ-NG - - OI, OI3 - PubMed: Caparros-Martin et al., 2016 The technique used was whole exome sequencing. - - - Egyptian - - - - 1 Raymond Dalgleish
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - - - rs72651658 Unknown - - - - - DNA MCA, SEQ - - OI, OI3 - - - - - - - - - - - 1 Margherita Maioli
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - - - rs72651658 Unknown - - - - - DNA MCA, SEQ - - OI, OI2 - - - - - - - - - - - 1 Margherita Maioli
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - PubMed: Ho Duy et al., 2016 - rs72651658 Unknown - - - - - DNA PCR, SEQ - - OI, OI1 - PubMed: Ho Duy et al., 2016 - - - - Vietnamese - - - - 1 Raymond Dalgleish
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - PubMed: Ho Duy et al., 2016 - rs72651658 Unknown - - - - - DNA PCR, SEQ - - OI, OI3 - PubMed: Ho Duy et al., 2016 - - - - Vietnamese - - - - 1 Raymond Dalgleish
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - PubMed: Li 2019, Journal: Li 2019 - rs72651658 Unknown - - - - - DNA PCR, SEQ - - OI, OI3 - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/? 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - VUS g.48268222C>T - - - COL1A1_000118 - PubMed: Li 2019, Journal: Li 2019 - rs72651658 Unknown - - - - - DNA PCR, SEQ - - OI, OI1 - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/? 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - VUS g.48268222C>T - - - COL1A1_000118 - PubMed: Li 2019, Journal: Li 2019 - rs72651658 Unknown - - - - - DNA PCR, SEQ - - OI, OI3 - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/? 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - VUS g.48268222C>T - - - COL1A1_000118 - PubMed: Li 2019, Journal: Li 2019 - rs72651658 Unknown - - - - - DNA PCR, SEQ - - OI, OI3 - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/? 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - VUS g.48268222C>T - - - COL1A1_000118 - PubMed: Li 2019, Journal: Li 2019 - rs72651658 Unknown - - - - - DNA PCR, SEQ - - OI, OI3 - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/? 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - VUS g.48268222C>T - - - COL1A1_000118 - PubMed: Li 2019, Journal: Li 2019 - rs72651658 Unknown - - - - - DNA PCR, SEQ - - OI, OI3 - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - PubMed: Chen et al., 2019 - rs72651658 Unknown - - - - - DNA PCR, SEQ, SEQ-NG - - OI - PubMed: Chen et al., 2019 The technique used was whole genome sequencing. - - - Chinese - - - - 1 Raymond Dalgleish
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - VUS g.48268222C>T - - - COL1A1_000118 - {PMID29499418 : Mrosk et al., 2018} - rs72651658 Unknown - - - - - DNA SEQ - - - - - - - - - - - - - - - -
+/+ 33_34 c.2299G>A r.(?) p.(Gly767Ser) missense Gly589Ser Unknown - VUS g.48268222C>T - - - COL1A1_000118 - PubMed: Zhang et al., 2017 - rs72651658 Unknown - - - - - DNA SEQ - - - - - - - - - - - - - - - -
+/+ - c.2299G>A r.(?) p.(Gly767Ser) - - Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - PubMed: Demir 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - 57-gene panel OI B4 PubMed: Demir 2021 analysis 43 OI patients F - Turkey - - - - - 1 Johan den Dunnen
+/. - c.2299G>A r.(?) p.(Gly767Ser) - - Unknown - pathogenic (dominant) g.48268222C>T g.50190861C>T NM_000088.3:c.2299G>A:p.(Gly767Ser) - COL1A1_000118 - PubMed: Maddirevula 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 11DG0155 PubMed: Maddirevula 2018 isolated case M no - Arab - - - - 1 LOVD
+/. - c.2299G>A r.(?) p.(Gly767Ser) - - Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - PubMed: Rauch 2014 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel OI PatV19 PubMed: Rauch 2014 - - - Canada - - - - - 1 Johan den Dunnen
+/. 33 c.2299G>A r.(?) p.(Gly767Ser) - - Unknown - pathogenic (dominant) g.48268222C>T g.50190861C>T - - COL1A1_000118 Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic - - rs72651658 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 33 c.2299G>A r.(?) p.(Gly767Ser) - - Unknown ACMG pathogenic (dominant) g.48268222C>T g.50190861C>T - - COL1A1_000118 - PubMed: Yamaguti 2023, Journal: Yamaguti 2023 - - Germline - - - - - DNA SEQ-NG - - OI FR2022-14 PubMed: Yamaguti 2023, Journal: Yamaguti 2023 - F - France - - - - - 1 Juliana Mazzeu
+/. - c.2299G>A r.(?) p.(Gly767Ser) - - Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - PubMed: Tuysuz 2022 VCV000546096.7 - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel OI Pat30 PubMed: Tuysuz 2022 - - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.2299G>A r.(?) p.(Gly767Ser) - - Unknown - pathogenic g.48268222C>T g.50190861C>T - - COL1A1_000118 - PubMed: Tuysuz 2022 VCV000546096.7 - De novo - - - - - DNA SEQ, SEQ-NG - gene panel OI Pat31 PubMed: Tuysuz 2022 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 33 c.2299G>A: r.(?) p.(Gly767Ser) - - Unknown ACMG pathogenic (dominant) g.48268222C>T g.50190861C>T - - COL1A1_000118 - PubMed: Yamaguti 2023, Journal: Yamaguti 2023 - - Germline - - - - - DNA SEQ-NG - - OI BR2022-09 PubMed: Yamaguti 2023, Journal: Yamaguti 2023 - F - Brazil - - - - - 1 Juliana Mazzeu
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