Full data view for gene COL1A1


Osteogenesis Imperfecta Variant Database

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

41 entries on 1 page. Showing entries 1 - 41.
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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     
+/. 26i c.1821+1G>A r.spl p.? - - Parent #1 - pathogenic (dominant) g.48270354C>T g.50192993C>T - - COL1A1_000415 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline - - - - - DNA SEQ - - OI AN_004429 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - - - - 1 Global Variome, with Curator vacancy
+/. 26i c.1821+1G>A r.spl p.? - - Parent #1 - pathogenic (dominant) g.48270354C>T g.50192993C>T - - COL1A1_000415 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline yes - - - - DNA SEQ - - OI AN_004430 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+/. 26i c.1821+1G>A r.spl p.? - - Parent #1 - pathogenic (dominant) g.48270354C>T g.50192993C>T - - COL1A1_000415 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline/De novo (untested) - - - - - DNA SEQ - - OI AN_004431 PubMed: Schleit 2015, Journal: Schleit 2015 no family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+/. 26i c.1821+1G>A r.spl p.? - - Parent #1 - pathogenic (dominant) g.48270354C>T g.50192993C>T - - COL1A1_000415 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline yes - - - - DNA SEQ - - OI AN_004432 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+/. 26i c.1821+1G>A r.spl p.? - - Parent #1 - pathogenic (dominant) g.48270354C>T g.50192993C>T - - COL1A1_000415 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline yes - - - - DNA SEQ - - OI AN_004433 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+/. 26i c.1821+1G>A r.spl p.? - - Parent #1 - pathogenic (dominant) g.48270354C>T g.50192993C>T - - COL1A1_000415 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline yes - - - - DNA SEQ - - OI AN_004434 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+/. 26i c.1821+1G>A r.spl p.? - - Parent #1 - pathogenic (dominant) g.48270354C>T g.50192993C>T - - COL1A1_000415 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline yes - - - - DNA SEQ - - OI AN_004435 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+/. 26i c.1821+1G>A r.spl p.? - - Parent #1 - pathogenic (dominant) g.48270354C>T g.50192993C>T - - COL1A1_000415 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline - - - - - DNA SEQ - - OI AN_004436 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - - - - 1 Global Variome, with Curator vacancy
+/. 26i c.1821+1G>A r.spl p.? - - Parent #1 - pathogenic (dominant) g.48270354C>T g.50192993C>T - - COL1A1_000415 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline yes - - - - DNA SEQ - - OI AN_004437 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+/. 26i c.1821+1G>A r.spl p.? - - Parent #1 - pathogenic (dominant) g.48270354C>T g.50192993C>T - - COL1A1_000415 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline yes - - - - DNA SEQ - - OI AN_004438 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+/. 26i c.1821+1G>A r.spl p.? - - Parent #1 - pathogenic (dominant) g.48270354C>T g.50192993C>T - - COL1A1_000415 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline yes - - - - DNA SEQ - - OI AN_004439 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+/. 26i c.1821+1G>A r.spl p.? - - Parent #1 - pathogenic (dominant) g.48270354C>T g.50192993C>T - - COL1A1_000415 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline yes - - - - DNA SEQ - - OI AN_004440 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+/. 26i c.1821+1G>A r.spl p.? - - Parent #1 - pathogenic (dominant) g.48270354C>T g.50192993C>T - - COL1A1_000415 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline yes - - - - DNA SEQ - - OI AN_004441 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+/. 26i c.1821+1G>A r.spl p.? - - Parent #1 - pathogenic (dominant) g.48270354C>T g.50192993C>T - - COL1A1_000415 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline yes - - - - DNA SEQ - - OI AN_004442 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+/. 26i c.1821+1G>A r.spl p.? - - Parent #1 - pathogenic (dominant) g.48270354C>T g.50192993C>T - - COL1A1_000415 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline yes - - - - DNA SEQ - - OI AN_004443 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+/+ 26i c.1821+1G>A r.spl? p.? - - Unknown ACMG pathogenic (dominant) g.48270354C>T g.50192993C>T - - COL1A1_000415 ACMG PVS1 PS3 PubMed: Higuchi 2021, Journal: Higuchi 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - OI1 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - F no Japan Japanese - - - - 1 Yousuke Higuchi
+/. 26i c.1821+1G>A r.spl p.? - - Parent #1 - pathogenic (dominant) g.48270354C>T g.50192993C>T - - COL1A1_000415 - PubMed: Liu 2017 - - Germline - 1/101 cases OI - - - DNA SEQ-NG - targeted 14-gene panel OI OI Fam48 PubMed: Liu 2017 analysis 101 unrelated OI families F - China - - - - - 1 Johan den Dunnen
+/+ 26i c.1821+1G>A r.spl? p.? splicing affected? - Unknown - pathogenic g.48270354C>T g.50192993C>T - - COL1A1_000415 - PubMed: Marini et al., 2007 (Körkkö and Prockop, personal communication) - rs66555264 Unknown - - - - - ? ? - - OI, OI1 - PubMed: Marini et al., 2007 (Körkkö and Prockop, personal communication) - - - - - - - - - 1 Raymond Dalgleish
+/+ 26i c.1821+1G>A r.spl? p.? splicing affected? - Unknown - pathogenic g.48270354C>T g.50192993C>T - - COL1A1_000415 - PubMed: Marini et al., 2007 (Hyland and Prockop, personal communication) - rs66555264 Unknown - - - - - ? ? - - OI, OI1 - PubMed: Marini et al., 2007 (Hyland and Prockop, personal communication) - - - - - - - - - 1 Raymond Dalgleish
+/+ 26i c.1821+1G>A r.spl? p.? splicing affected? - Unknown - pathogenic g.48270354C>T g.50192993C>T - - COL1A1_000415 - PubMed: Marini et al., 2007 (De Paepe, personal communication) - rs66555264 Unknown - - - - - ? ? - - OI, OI1 - PubMed: Marini et al., 2007 (De Paepe, personal communication) - - - - - - - - - 1 Raymond Dalgleish
+/+ 26i c.1821+1G>A r.spl? p.? splicing affected? - Unknown - pathogenic g.48270354C>T g.50192993C>T - - COL1A1_000415 - PubMed: Marini et al., 2007 (De Paepe, personal communication) - rs66555264 Unknown - - - - - ? ? - - OI, OI4 - PubMed: Marini et al., 2007 (De Paepe, personal communication) - - - - - - - - - 1 Raymond Dalgleish
+/+ 26i c.1821+1G>A r.spl? p.? splicing affected? - Unknown - pathogenic g.48270354C>T g.50192993C>T - - COL1A1_000415 - PubMed: Stover et al., 1993 - rs66555264 Unknown - - - - - DNA, RNA PCR, RT-PCR, SEQ, NUC - - OI, OI1 - PubMed: Stover et al., 1993 The technique used was ribonuclease A analysis (RNaseA). - - - - - - - - 1 Raymond Dalgleish
+/+ 26i c.1821+1G>A r.spl? p.? splicing affected? - Unknown - pathogenic g.48270354C>T g.50192993C>T - - COL1A1_000415 - PubMed: Körkkö et al., 1997 - rs66555264 Unknown - - - - - DNA DGGE, PCR, SEQ - - OI, OI1 - PubMed: Körkkö et al., 1997 - - - - - - - - - 1 Raymond Dalgleish
+/+ 26i c.1821+1G>A r.spl? p.? splicing affected? - Unknown - pathogenic g.48270354C>T g.50192993C>T - - COL1A1_000415 - PubMed: Johnson et al., 2000 - rs66555264 Unknown - - - - - DNA, RNA PCR, SEQ, NUC - - OI, OI1 - PubMed: Johnson et al., 2000 The technique used was ribonuclease A analysis (RNaseA). - - - - - - - - 1 Raymond Dalgleish
+/+ 26i c.1821+1G>A r.spl? p.? splicing affected? - Unknown - pathogenic g.48270354C>T g.50192993C>T - - COL1A1_000415 - PubMed: Qin et al., 2005 - rs66555264 Unknown - - - - - ? ? - - OI - PubMed: Qin et al., 2005 This is presumed to be a case of type I OI. - - - - - - - - 1 Raymond Dalgleish
+/+ 26i c.1821+1G>A r.spl? p.? splicing affected? - Unknown - pathogenic g.48270354C>T g.50192993C>T - - COL1A1_000415 - - - rs66555264 Unknown - - - - - DNA DHPLC, SEQ - - OI, OI4 - - - - - - - - - - - 1 Margherita Maioli
+/+ 26i c.1821+1G>A r.spl? p.? splicing affected? - Unknown - pathogenic g.48270354C>T g.50192993C>T - - COL1A1_000415 - - - rs66555264 Unknown - - - - - DNA DHPLC, SEQ - - OI, OI1 - - - - - - - - - - - 1 Margherita Maioli
+/+ 26i c.1821+1G>A r.spl? p.? splicing affected? - Unknown - pathogenic g.48270354C>T g.50192993C>T - - COL1A1_000415 - - - rs66555264 Unknown - - - - - DNA DHPLC, SEQ - - OI, OI1 - - - - - - - - - - - 1 Anna Maria Di Blasio
+/+ 26i c.1821+1G>A r.spl? p.? splicing affected? - Unknown - pathogenic g.48270354C>T g.50192993C>T - - COL1A1_000415 - - - rs66555264 Unknown - - - - - DNA DHPLC, SEQ - - OI, OI1 - - - - - - - - - - - 1 Anna Maria Di Blasio
+/+ 26i c.1821+1G>A r.spl? p.? splicing affected? - Unknown - pathogenic g.48270354C>T g.50192993C>T - - COL1A1_000415 - PubMed: Lindahl et al., 2015 - rs66555264 Unknown - - - - - DNA PCR, SEQ - - OI, OI1 - PubMed: Lindahl et al., 2015 - - - - Swedish - - - - 1 Katarina Lindahl
+/+ 26i c.1821+1G>A r.spl? p.? splicing affected? - Unknown - pathogenic g.48270354C>T g.50192993C>T - - COL1A1_000415 - - - rs66555264 Unknown - - - - - DNA DHPLC, SEQ - - OI, OI4 - - - - - - - - - - - 1 Margherita Maioli
+/+ 26i c.1821+1G>A r.spl? p.? splicing affected? - Unknown - pathogenic g.48270354C>T g.50192993C>T - - COL1A1_000415 - - - rs66555264 Unknown - - - - - DNA DHPLC, SEQ - - OI, OI1 - - - - - - - - - - - 1 Margherita Maioli
+/+ 26i c.1821+1G>A r.spl? p.? splicing affected? - Unknown - pathogenic g.48270354C>T g.50192993C>T - - COL1A1_000415 - - - rs66555264 Unknown - - - - - DNA DHPLC, SEQ - - OI, OI1 - - - - - - - - - - - 1 Margherita Maioli
+/+ 26i c.1821+1G>A r.spl? p.? splicing affected? - Unknown - pathogenic g.48270354C>T g.50192993C>T - - COL1A1_000415 - - - rs66555264 Unknown - - - - - DNA DHPLC, SEQ - - OI, OI1 - - - - - - - - - - - 1 Margherita Maioli
+/? 26i c.1821+1G>A r.? - splicing affected? - Unknown - VUS g.48270354C>T - - - COL1A1_000415 - PubMed: Li 2019, Journal: Li 2019 - rs66555264 Unknown - - - - - DNA PCR, SEQ - - OI, OI1 - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/+ 26i c.1821+1G>A r.spl? p.? splicing affected? - Unknown - pathogenic g.48270354C>T g.50192993C>T - - COL1A1_000415 - PubMed: Zhytnik 2017 - rs66555264 Germline - - - - - DNA SEQ - - OI, OI3 EE02 PubMed: Zhytnik 2017 - - - Estonia - - - - - 1 Lidiia Zhytnik
+/+ 26i c.1821+1G>A r.? - splicing affected? - Unknown - VUS g.48270354C>T - - - COL1A1_000415 - - - rs66555264 Unknown - - - - - DNA SEQ - - - - - - - - - - - - - - - -
+/+ - c.1821+1G>A r.spl p.? - - Unknown - pathogenic g.48270354C>T g.50192993C>T - - COL1A1_000415 - PubMed: Demir 2021 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - 57-gene panel OI B8 PubMed: Demir 2021 analysis 43 OI patients F - Turkey - - - - - 1 Johan den Dunnen
+/. 26i c.1821+1G>A r.spl p.? splicing affected - Unknown - pathogenic (dominant) g.48270354C>T - c.1821+1G>GA - COL1A1_000415 - PubMed: Zhytnik 2017 - - Germline - - - - - DNA SEQ - - OI EE05 PubMed: Zhytnik 2017 - - - Estonia - - - - - 1 Johan den Dunnen
+/. 26i c.1821+1G>A r.spl p.? - - Unknown - pathogenic (dominant) g.48270354C>T g.50192993C>T - - COL1A1_000415 Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1 - - rs66555264 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 26i c.1821+1G>A  r.spl p.? - - Unknown ACMG pathogenic (dominant) g.48270354C>T g.50192993C>T - - COL1A1_000415 - PubMed: Yamaguti 2023, Journal: Yamaguti 2023 - - Germline - - - - - DNA SEQ-NG - - OI BR2022-08 PubMed: Yamaguti 2023, Journal: Yamaguti 2023 - F - Brazil - - - - - 1 Juliana Mazzeu
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