Full data view for gene COL1A1


Osteogenesis Imperfecta Variant Database

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

49 entries on 1 page. Showing entries 1 - 49.
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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     
+/+ 36 c.2461G>A r.(?) p.(Gly821Ser) - - Unknown ACMG pathogenic (dominant) g.48267460C>T g.50190099C>T - - COL1A1_000147 ACMG PS1 PS3 PubMed: Higuchi 2021, Journal: Higuchi 2021 - - Germline - - - - - DNA SEQ - - OI - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M - Japan Japanese - - - - 1 Yousuke Higuchi
+/+ 36 c.2461G>A r.(?) p.(Gly821Ser) - - Unknown ACMG pathogenic (dominant) g.48267460C>T g.50190099C>T - - COL1A1_000147 ACMG PS1 PS3 PubMed: Higuchi 2021, Journal: Higuchi 2021 - - Germline - - - - - DNA SEQ - - OI - PubMed: Higuchi 2021, Journal: Higuchi 2021 - F - Japan Japanese - - - - 1 Yousuke Higuchi
+/. 37 c.2461G>A r.(?) p.(Gly821Ser) - - Parent #1 - pathogenic (dominant) g.48267460C>T g.50190099C>T - - COL1A1_000147 - PubMed: Liu 2017 - - Germline - 1/101 cases OI - - - DNA SEQ-NG - targeted 14-gene panel OI OI Fam52 PubMed: Liu 2017 analysis 101 unrelated OI families F - China - - - - - 1 Johan den Dunnen
+/+ 37 c.2461G>A r.(?) p.(Gly821Ser) missense Gly643Ser Unknown - pathogenic g.48267460C>T g.50190099C>T - - COL1A1_000147 - PubMed: Marini et al., 2007 (Marini and Moriarty, personal communication) - rs67693971 Unknown - - - - - ? ? - - OI, OI4 - PubMed: Marini et al., 2007 (Marini and Moriarty, personal communication) - - - - - - - - - 1 Raymond Dalgleish
+/+ 37 c.2461G>A r.(?) p.(Gly821Ser) missense Gly643Ser Unknown - pathogenic g.48267460C>T g.50190099C>T - - COL1A1_000147 - PubMed: Marini et al., 2007 (Lund, personal communication) - rs67693971 Unknown - - - - - ? ? - - OI, OI3 - PubMed: Marini et al., 2007 (Lund, personal communication) - - - - - - - - - 1 Raymond Dalgleish
+/+ 37 c.2461G>A r.(?) p.(Gly821Ser) missense Gly643Ser Unknown - pathogenic g.48267460C>T g.50190099C>T - - COL1A1_000147 - PubMed: Marini et al., 2007 (Byers, personal communication) - rs67693971 Unknown - - - - - ? ? - - OI, OI2 - PubMed: Marini et al., 2007 (Byers, personal communication) - - - - - - - - - 1 Peter Byers
+/+ 37 c.2461G>A r.(?) p.(Gly821Ser) missense Gly643Ser Unknown - pathogenic g.48267460C>T g.50190099C>T - - COL1A1_000147 - PubMed: Lund et al., 1997 - rs67693971 Unknown - - - - - RNA PAGE, PCR, RT-PCR, SEQ - - OI, OI3 - PubMed: Lund et al., 1997 - - - - white - - - - 1 Allan Lund
+/+ 37 c.2461G>A r.(?) p.(Gly821Ser) missense Gly643Ser Unknown - pathogenic g.48267460C>T g.50190099C>T - - COL1A1_000147 - PubMed: Wang et al., 2006 - rs67693971 Unknown - - - - - DNA SEQ - - OI, OI1 - PubMed: Wang et al., 2006 The detection template is assumed to be DNA but this is not stated explicitly in the English abstract of the paper which is in Chinese. - - - - - - - - 1 Raymond Dalgleish
+/+ 37 c.2461G>A r.(?) p.(Gly821Ser) missense Gly643Ser Unknown - pathogenic g.48267460C>T g.50190099C>T - - COL1A1_000147 - PubMed: Lee et al., 2006 - rs67693971 Unknown - - - - - DNA SEQ - - OI - PubMed: Lee et al., 2006 - - - - - - - - - 1 Raymond Dalgleish
+/+ 37 c.2461G>A r.(?) p.(Gly821Ser) missense Gly643Ser Unknown - pathogenic g.48267460C>T g.50190099C>T - - COL1A1_000147 - PubMed: Venturi et al., 2006 - rs67693971 Unknown - - - - - DNA SEQ - - OI, OI3 - PubMed: Venturi et al., 2006 - - - - - - - - - 1 Raymond Dalgleish
+/+ 37 c.2461G>A r.(?) p.(Gly821Ser) missense Gly643Ser Unknown - pathogenic g.48267460C>T g.50190099C>T - - COL1A1_000147 - - - rs67693971 Unknown - - - - - DNA DHPLC, SEQ - - OI, OI4 - - - - - - - - - - - 1 Margherita Maioli
+/+ 37 c.2461G>A r.(?) p.(Gly821Ser) missense Gly643Ser Unknown - pathogenic g.48267460C>T g.50190099C>T - - COL1A1_000147 - - - rs67693971 Unknown - - - - - DNA SEQ - - OI, OI3 - - - - - - - - - - - 1 Isabel Mandy Nesbitt
+/+ 37 c.2461G>A r.(?) p.(Gly821Ser) missense Gly643Ser Unknown - pathogenic g.48267460C>T g.50190099C>T - - COL1A1_000147 - - - rs67693971 Unknown - - - - - RNA PAGE, PCR, RT-PCR, SEQ - - OI, OI3 - - - - - - white - - - - 1 Allan Lund
+/+ 37 c.2461G>A r.(?) p.(Gly821Ser) missense Gly643Ser Unknown - pathogenic g.48267460C>T g.50190099C>T - - COL1A1_000147 - PubMed: Zhang et al., 2011 - rs67693971 Unknown - - - - - DNA PCR, SEQ - - OI, OI4 - PubMed: Zhang et al., 2011 - - - - Han Chinese - - - - 1 Raymond Dalgleish
+/+ 37 c.2461G>A r.(?) p.(Gly821Ser) missense Gly643Ser Unknown - pathogenic g.48267460C>T g.50190099C>T - - COL1A1_000147 - PubMed: Zhang et al., 2011 - rs67693971 Unknown - - - - - DNA PCR, SEQ - - OI, OI4 - PubMed: Zhang et al., 2011 - - - - Han Chinese - - - - 1 Raymond Dalgleish
+/+ 37 c.2461G>A r.(?) p.(Gly821Ser) missense Gly643Ser Unknown - pathogenic g.48267460C>T g.50190099C>T - - COL1A1_000147 - - - rs67693971 Unknown - - - - - DNA PCR, SEQ - - OI, OI3 - - - - - - - - - - - 1 Sofie Symoens
+/+ 37 c.2461G>A r.(?) p.(Gly821Ser) missense Gly643Ser Unknown - pathogenic g.48267460C>T g.50190099C>T - - COL1A1_000147 - - - rs67693971 Unknown - - - - - DNA PCR, SEQ - - OI, OI3, OI4 - - - - - - - - - - - 1 Sofie Symoens
+/+ 37 c.2461G>A r.(?) p.(Gly821Ser) missense Gly643Ser Unknown - pathogenic g.48267460C>T g.50190099C>T - - COL1A1_000147 - - - rs67693971 Unknown - - - - - DNA PCR, SEQ - - OI, OI1, OI4 - - - - - - - - - - - 1 Sofie Symoens
+/+ 37 c.2461G>A r.(?) p.(Gly821Ser) missense Gly643Ser Unknown - pathogenic g.48267460C>T g.50190099C>T - - COL1A1_000147 - - - rs67693971 Unknown - - - - - DNA PCR, SEQ - - OI, OI3 - - - - - - - - - - - 1 Sofie Symoens
+/+ 37 c.2461G>A r.(?) p.(Gly821Ser) missense Gly643Ser Unknown - pathogenic g.48267460C>T g.50190099C>T - - COL1A1_000147 - PubMed: Fuccio et al., 2011 - rs67693971 Unknown - - - - - DNA DGGE, PCR, SEQ - - OI, OI8 - PubMed: Fuccio et al., 2011 This patient is reported to harbour two COL1A1 variants, either of which would be expected to result alone in producing the OI phenotype. The c.77G>A variant is previously reported as causing OI I and the frequent c.2461G>A variant causes predominantly OI types III and IV. The possible parental origin of these variants is not reported and the matter of the patient having two disease-causing variants is not discussed by the authors.Although the OI type is not recorded in the publication, the authors have provided this information subsequently. - - - - - - - - 1 Raymond Dalgleish
+/+ 37 c.2461G>A r.(?) p.(Gly821Ser) missense Gly643Ser Unknown - pathogenic g.48267460C>T g.50190099C>T - - COL1A1_000147 - - - rs67693971 Unknown - - - - - DNA MS, PCR, SEQ - - OI, OI4 - - - - - - - - - - - 1 Yanqin Lu
+/+ 37 c.2461G>A r.(?) p.(Gly821Ser) missense Gly643Ser Unknown - pathogenic g.48267460C>T g.50190099C>T - - COL1A1_000147 - - - rs67693971 Unknown - - - - - DNA MS, PCR, SEQ - - OI, OI3, OI4 - - - - - - - - - - - 1 Yanqin Lu
+/+ 37 c.2461G>A r.(?) p.(Gly821Ser) missense Gly643Ser Unknown - pathogenic g.48267460C>T g.50190099C>T - - COL1A1_000147 - - - rs67693971 Unknown - - - - - DNA MS, PCR, SEQ - - OI - - - - - - - - - - - 1 Yanqin Lu
+/+ 37 c.2461G>A r.(?) p.(Gly821Ser) missense Gly643Ser Unknown - pathogenic g.48267460C>T g.50190099C>T - - COL1A1_000147 - - - rs67693971 Unknown - - - - - DNA MS, PCR, SEQ - - OI, OI3, OI4 - - - - - - - - - - - 1 Yanqin Lu
+?/+ 37 c.2461G>A r.(?) p.(Gly821Ser) missense Gly643Ser Unknown - pathogenic g.48267460C>T g.50190099C>T - - COL1A1_000147 - - - rs67693971 Unknown - - - - - DNA, protein PCR, SEQ - - OI, OI3 - - Thermal stability of collagen triple helix is decreased by 1.25ËšC. Neither parent harbours this variant. - - - European - - - - 1 Aleksandra Augusciak-Duma
+/+ 37 c.2461G>A r.(?) p.(Gly821Ser) missense Gly643Ser Unknown - pathogenic g.48267460C>T g.50190099C>T - - COL1A1_000147 - PubMed: Lindahl et al., 2015 - rs67693971 Unknown - - - - - DNA PCR, SEQ - - OI, OI4 - PubMed: Lindahl et al., 2015 - - - - Swedish - - - - 1 Katarina Lindahl
+/+ 37 c.2461G>A r.(?) p.(Gly821Ser) missense Gly643Ser Paternal (inferred) - pathogenic g.48267460C>T g.50190099C>T - - COL1A1_000147 - PubMed: Lindahl et al., 2015 - rs67693971 Unknown - - - - - DNA PCR, SEQ - - OI, OI4 - PubMed: Lindahl et al., 2015 - - - - Swedish - - - - 1 Katarina Lindahl
+/+ 37 c.2461G>A r.(?) p.(Gly821Ser) missense Gly643Ser Unknown - pathogenic g.48267460C>T g.50190099C>T - - COL1A1_000147 - PubMed: Lin et al., 2015 - rs67693971 Unknown - - - - - DNA PCR, SEQ - - OI, OI4 - PubMed: Lin et al., 2015 - - - - Taiwanese - - - - 1 Raymond Dalgleish
+/+ 37 c.2461G>A r.(?) p.(Gly821Ser) missense Gly643Ser Unknown - pathogenic g.48267460C>T g.50190099C>T - - COL1A1_000147 - PubMed: Ho Duy et al., 2016 - rs67693971 Unknown - - - - - DNA PCR, SEQ - - OI, OI1 - PubMed: Ho Duy et al., 2016 The c.2005G>A variant may or may not modify the phenotype. - - - Vietnamese - - - - 1 Raymond Dalgleish
+/+ 37 c.2461G>A r.(?) p.(Gly821Ser) missense Gly643Ser Unknown - pathogenic g.48267460C>T g.50190099C>T - - COL1A1_000147 - PubMed: Ho Duy et al., 2016 - rs67693971 Unknown - - - - - DNA PCR, SEQ - - OI, OI4 - PubMed: Ho Duy et al., 2016 - - - - Vietnamese - - - - 1 Raymond Dalgleish
+/+ 37 c.2461G>A r.(?) p.(Gly821Ser) missense Gly643Ser Unknown - pathogenic g.48267460C>T g.50190099C>T - - COL1A1_000147 - PubMed: Ho Duy et al., 2016 - rs67693971 Unknown - - - - - DNA PCR, SEQ - - OI, OI4 - PubMed: Ho Duy et al., 2016 - - - - Vietnamese - - - - 1 Raymond Dalgleish
+/+ 37 c.2461G>A r.(?) p.(Gly821Ser) missense Gly643Ser Unknown - pathogenic g.48267460C>T g.50190099C>T - - COL1A1_000147 - PubMed: Ho Duy et al., 2016 - rs67693971 Unknown - - - - - DNA PCR, SEQ - - OI, OI4 - PubMed: Ho Duy et al., 2016 - - - - Vietnamese - - - - 1 Raymond Dalgleish
+/+ 37 c.2461G>A r.(?) p.(Gly821Ser) missense Gly643Ser Unknown - pathogenic g.48267460C>T g.50190099C>T - - COL1A1_000147 - PubMed: Kloen et al., 2018 - rs67693971 Unknown - - - - - DNA SEQ - - OI, OI3 - PubMed: Kloen et al., 2018 The proband's younger brother also harbours the same variant and also has OI type III. - - - - - - - - 1 Raymond Dalgleish
+/? 37 c.2461G>A r.? p.(Gly821Ser) missense Gly643Ser Unknown - VUS g.48267460C>T - - - COL1A1_000147 - PubMed: Li 2019, Journal: Li 2019 - rs67693971 Unknown - - - - - DNA PCR, SEQ - - OI, OI3 PUMC-44 PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/? 37 c.2461G>A r.? p.(Gly821Ser) missense Gly643Ser Unknown - VUS g.48267460C>T - - - COL1A1_000147 - PubMed: Li 2019, Journal: Li 2019 - rs67693971 Unknown - - - - - DNA PCR, SEQ - - OI, OI3 PUMC-50 PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/? 37 c.2461G>A r.? p.(Gly821Ser) missense Gly643Ser Unknown - VUS g.48267460C>T - - - COL1A1_000147 - PubMed: Li 2019, Journal: Li 2019 - rs67693971 Unknown - - - - - DNA PCR, SEQ - - OI, OI3 PUMC-55 PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/? 37 c.2461G>A r.? p.(Gly821Ser) missense Gly643Ser Unknown - VUS g.48267460C>T - - - COL1A1_000147 - PubMed: Li 2019, Journal: Li 2019 - rs67693971 Unknown - - - - - DNA SEQ-NG, PCR, SEQ - custom gene panel OI, OI1 PUMC-375 PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/? 37 c.2461G>A r.? p.(Gly821Ser) missense Gly643Ser Unknown - VUS g.48267460C>T - - - COL1A1_000147 - PubMed: Li 2019, Journal: Li 2019 - rs67693971 Unknown - - - - - DNA PCR, SEQ - - OI, OI3 PUMC-137 PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/? 37 c.2461G>A r.? p.(Gly821Ser) missense Gly643Ser Unknown - VUS g.48267460C>T - - - COL1A1_000147 - PubMed: Li 2019, Journal: Li 2019 - rs67693971 Unknown - - - - - DNA PCR, SEQ - - OI, OI3 PUMC-144 PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/? 37 c.2461G>A r.? p.(Gly821Ser) missense Gly643Ser Unknown - VUS g.48267460C>T - - - COL1A1_000147 - PubMed: Li 2019, Journal: Li 2019 - rs67693971 Unknown - - - - - DNA PCR, SEQ - - OI, OI4 PUMC-278 PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/? 37 c.2461G>A r.? p.(Gly821Ser) missense Gly643Ser Unknown - VUS g.48267460C>T - - - COL1A1_000147 - PubMed: Li 2019, Journal: Li 2019 - rs67693971 Unknown - - - - - DNA PCR, SEQ - - OI, OI4 PUMC-241 PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/+ 37 c.2461G>A r.(?) p.(Gly821Ser) missense Gly643Ser Unknown - pathogenic g.48267460C>T g.50190099C>T - - COL1A1_000147 - PubMed: Mohd Nawawi et al., 2018 - rs67693971 Unknown - - - - - DNA SEQ-NG - - OI, OI3 - PubMed: Mohd Nawawi et al., 2018 The technique used was the custom Gene panel - - - Malaysian - - - - 1 Raymond Dalgleish
+/+ 37 c.2461G>A r.? p.(Gly821Ser) missense Gly643Ser Unknown - VUS g.48267460C>T - - - COL1A1_000147 - {PMID29499418 : Mrosk et al., 2018} - rs67693971 Unknown - - - - - DNA SEQ - - - - - - - - - - - - - - - -
+/+ 37 c.2461G>A r.? p.(Gly821Ser) missense Gly643Ser Unknown - VUS g.48267460C>T - - - COL1A1_000147 - PubMed: Zhang et al., 2017 - rs67693971 Unknown - - - - - DNA SEQ - - - - - - - - - - - - - - - -
+/? 37 c.2461G>A r.(?) p.(Gly821Ser) missense Gly643Ser Unknown - VUS g.48267460C>T g.50190099C>T - - COL1A1_000147 - PubMed: Zhytnik 2019 - rs67693971 Germline - - - - - DNA PCR, SEQ - - OI, OI3 UA05 PubMed: Zhytnik 2019 - - - Ukraine - - - - - 1 Lidiia Zhytnik
+/. 36 c.2461G>A r.(?) p.(Gly821Ser) - - Unknown - pathogenic (dominant) g.48267460C>T g.50190099C>T - - COL1A1_000147 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 - - rs67693971 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 36 c.2461G>A r.(?) p.(Gly821Ser) - - Paternal (inferred) - pathogenic g.48267460C>T g.50190099C>T - - COL1A1_000147 - - - - Germline - - - - - DNA SEQ, SEQ-NG blood - OI - - - - - Italy - - - - - 1 Lucia Micale
+/. 36 c.2461G>A r.(?) p.(Gly821Ser) - - Unknown ACMG pathogenic (dominant) g.48267460C>T g.50190099C>T - - COL1A1_000147 - PubMed: Yamaguti 2023, Journal: Yamaguti 2023 - - Germline - - - - - DNA SEQ-NG - - OI BR2022-10 PubMed: Yamaguti 2023, Journal: Yamaguti 2023 - M - Brazil - - - - - 1 Juliana Mazzeu
+/. - c.2461G>A r.(?) p.(Gly821Ser) missense - Unknown - pathogenic g.48267460C>T - - - COL1A1_000147 - PubMed: Nadyrshina 2022 - - Unknown - - - - - DNA SEQ-NG whole venous blood - OI3 Pat15 PubMed: Nadyrshina 2022 - F ? Russia - >28y - - - 1 Kim Worring
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