Full data view for gene COL1A1


Osteogenesis Imperfecta Variant Database

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

38 entries on 1 page. Showing entries 1 - 38.
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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     
+/. 19i c.1299+1G>A r.spl p.? - - Parent #1 - pathogenic (dominant) g.48272592C>T g.50195231C>T - - COL1A1_000400 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline yes - - - - DNA SEQ - - OI AN_004372 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+/. 19i c.1299+1G>A r.spl p.? - - Parent #1 - pathogenic (dominant) g.48272592C>T g.50195231C>T - - COL1A1_000400 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline yes - - - - DNA SEQ - - OI AN_004373 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+/. 19i c.1299+1G>A r.spl p.? - - Parent #1 - pathogenic (dominant) g.48272592C>T g.50195231C>T - - COL1A1_000400 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline yes - - - - DNA SEQ - - OI AN_004374 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+/. 19i c.1299+1G>A r.spl p.? - - Parent #1 - pathogenic (dominant) g.48272592C>T g.50195231C>T - - COL1A1_000400 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline - - - - - DNA SEQ - - OI AN_004375 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - - - - 1 Global Variome, with Curator vacancy
+/. 19i c.1299+1G>A r.spl p.? - - Parent #1 - pathogenic (dominant) g.48272592C>T g.50195231C>T - - COL1A1_000400 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline yes - - - - DNA SEQ - - OI AN_004376 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+/. 19i c.1299+1G>A r.spl p.? - - Parent #1 - pathogenic (dominant) g.48272592C>T g.50195231C>T - - COL1A1_000400 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline yes - - - - DNA SEQ - - OI AN_004377 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+/. 19i c.1299+1G>A r.spl p.? - - Parent #1 - pathogenic (dominant) g.48272592C>T g.50195231C>T - - COL1A1_000400 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline - - - - - DNA SEQ - - OI AN_004378 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - - - - 1 Global Variome, with Curator vacancy
+/. 19i c.1299+1G>A r.spl p.? - - Parent #1 - pathogenic (dominant) g.48272592C>T g.50195231C>T - - COL1A1_000400 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline - - - - - DNA SEQ - - OI AN_004379 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - - - - 1 Global Variome, with Curator vacancy
+/. 19i c.1299+1G>A r.spl p.? - - Parent #1 - pathogenic (dominant) g.48272592C>T g.50195231C>T - - COL1A1_000400 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline yes - - - - DNA SEQ - - OI AN_004380 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+/. 19i c.1299+1G>A r.spl p.? - - Parent #1 - pathogenic (dominant) g.48272592C>T g.50195231C>T - - COL1A1_000400 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline yes - - - - DNA SEQ - - OI AN_004381 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+/. 19i c.1299+1G>A r.spl p.? - - Parent #1 - pathogenic (dominant) g.48272592C>T g.50195231C>T - - COL1A1_000400 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline yes - - - - DNA SEQ - - OI AN_004382 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+/. 19i c.1299+1G>A r.spl p.? - - Parent #1 - pathogenic (dominant) g.48272592C>T g.50195231C>T - - COL1A1_000400 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline yes - - - - DNA SEQ - - OI AN_004384 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+/. 19i c.1299+1G>A r.spl p.? - - Parent #1 - pathogenic (dominant) g.48272592C>T g.50195231C>T - - COL1A1_000400 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline - - - - - DNA SEQ - - OI AN_004385 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - - - - 1 Global Variome, with Curator vacancy
+/. 19i c.1299+1G>A r.spl p.? - - Parent #1 - pathogenic (dominant) g.48272592C>T g.50195231C>T - - COL1A1_000400 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline yes - - - - DNA SEQ - - OI AN_004386 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+/. 19i c.1299+1G>A r.spl p.? - - Parent #1 - pathogenic (dominant) g.48272592C>T g.50195231C>T - - COL1A1_000400 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline yes - - - - DNA SEQ - - OI AN_004387 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+/. 19i c.1299+1G>A r.[1292_1299del,1201_1299del] p.? - - Parent #1 - pathogenic (dominant) g.48272592C>T g.50195231C>T - - COL1A1_000400 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline yes - - - - DNA SEQ - - OI AN_004388 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+/. - c.1299+1G>A r.spl? p.? - - Unknown - pathogenic g.48272592C>T g.50195231C>T COL1A1(NM_000088.3):c.1299+1G>A - COL1A1_000400 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 19i c.1299+1G>A r.spl? p.? - - Maternal (confirmed) ACMG pathogenic (dominant) g.48272592C>T g.50195231C>T - - COL1A1_000400 ACMG PVS1 PS3 PubMed: Higuchi 2021, Journal: Higuchi 2021 - - Germline yes - - - - DNA SEQ - - OI1 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - F no Japan Japanese - - - - 2 Yousuke Higuchi
+/+ 19i c.1299+1G>A r.spl? p.? - - Unknown ACMG pathogenic (dominant) g.48272592C>T g.50195231C>T - - COL1A1_000400 ACMG PVS1 PS3 PubMed: Higuchi 2021, Journal: Higuchi 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - OI1 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M no Japan Japanese - - - - 1 Yousuke Higuchi
+/+ 19i c.1299+1G>A r.spl? p.? - - Unknown ACMG pathogenic (dominant) g.48272592C>T g.50195231C>T - - COL1A1_000400 ACMG PVS1 PS3 PubMed: Higuchi 2021, Journal: Higuchi 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - OI1 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M no Japan Japanese - - - - 1 Yousuke Higuchi
+/+ 19i c.1299+1G>A r.spl? p.? splicing affected? - Unknown - pathogenic g.48272592C>T g.50195231C>T - - COL1A1_000400 - PubMed: Marini et al., 2007 (Hyland and Prockop, personal communication) - rs66490707 Unknown - - - - - ? ? - - OI, OI1 - PubMed: Marini et al., 2007 (Hyland and Prockop, personal communication) - - - - - - - - - 1 Raymond Dalgleish
+/+ 19i c.1299+1G>A r.spl? p.? splicing affected? - Unknown - pathogenic g.48272592C>T g.50195231C>T - - COL1A1_000400 - PubMed: Benušiené and Kucinskas, 2003 - rs66490707 Unknown - - - - - DNA CSGE, PCR, SEQ - - OI, OI1 - PubMed: Benušiené and Kucinskas, 2003 - - - - Lithuanian - - - - 1 Raymond Dalgleish
+/+ 19i c.1299+1G>A r.spl? p.? splicing affected? - Unknown - pathogenic g.48272592C>T g.50195231C>T - - COL1A1_000400 - PubMed: Swinnen et al., 2009 - rs66490707 Unknown - - - - - DNA PCR, SEQ - - OI, OI1 - PubMed: Swinnen et al., 2009 The specific OI type was confirmed by the authors. - - - - - - - - 1 Raymond Dalgleish
+/+ 19i c.1299+1G>A r.spl? p.? splicing affected? - Unknown - pathogenic g.48272592C>T g.50195231C>T - - COL1A1_000400 - - - rs66490707 Unknown - - - - - DNA SEQ - - OI, OI1 - - - - - - - - - - - 1 Isabel Mandy Nesbitt
+/+ 19i c.1299+1G>A r.spl? p.? splicing affected? - Unknown - pathogenic g.48272592C>T g.50195231C>T - - COL1A1_000400 - PubMed: Gentile et al., 2013 - rs66490707 Unknown - - - - - DNA DHPLC, SEQ - - OI, OI1 - PubMed: Gentile et al., 2013 - - - - - - - - - 1 Margherita Maioli
+/+ 19i c.1299+1G>A r.spl? p.? splicing affected? - Unknown - pathogenic g.48272592C>T g.50195231C>T - - COL1A1_000400 - - - rs66490707 Unknown - - - - - DNA PCR, SEQ - - OI, OI1 - - - - - - Swedish - - - - 1 Katarina Lindahl
+/? 19i c.1299+1G>A r.spl? p.? splicing affected? - Unknown - VUS g.48272592C>T g.50195231C>T - - COL1A1_000400 - PubMed: Essawi 2018, Journal: Essawi 2018 - rs66490707 Unknown - - - - - DNA PCR, SEQ - - OI, OI1, OI4 AN_005808 PubMed: Essawi 2018 - - - Palestine Palestinian - - - - 1 Sofie Symoens
+/+ 19i c.1299+1G>A r.spl? p.? splicing affected? - Unknown - pathogenic g.48272592C>T g.50195231C>T - - COL1A1_000400 - - - rs66490707 Unknown - - - - - DNA DHPLC, SEQ - - OI, OI1 - - - - - - - - - - - 1 Margherita Maioli
+/+ 19i c.1299+1G>A r.spl? p.? splicing affected? - Unknown - pathogenic g.48272592C>T g.50195231C>T - - COL1A1_000400 - - - rs66490707 Unknown - - - - - DNA SEQ - - OI, OI1 - - - - - - - - - - - 1 Margherita Maioli
+/+ 19i c.1299+1G>A r.spl? p.? splicing affected? - Unknown - pathogenic g.48272592C>T g.50195231C>T - - COL1A1_000400 - - - rs66490707 Unknown - - - - - DNA SEQ - - OI, OI1 - - - - - - - - - - - 1 Margherita Maioli
+/+ 19i c.1299+1G>A r.spl? p.? splicing affected? - Unknown - pathogenic g.48272592C>T g.50195231C>T - - COL1A1_000400 - - - rs66490707 Unknown - - - - - DNA SEQ - - OI, OI1 - - - - - - - - - - - 1 Margherita Maioli
+/+ 19i c.1299+1G>A r.spl? p.? splicing affected? - Unknown - pathogenic g.48272592C>T g.50195231C>T - - COL1A1_000400 - - - rs66490707 Unknown - - - - - DNA SEQ - - OI, OI1 - - - - - - - - - - - 1 Margherita Maioli
+/+ 19i c.1299+1G>A r.? - splicing affected? - Unknown - VUS g.48272592C>T - - - COL1A1_000400 - - - rs66490707 Unknown - - - - - DNA MCA, SEQ - - - - - - - - - - - - - - - -
+/+ 19i c.1299+1G>A r.spl? p.? splicing affected? - Unknown - pathogenic g.48272592C>T g.50195231C>T - - COL1A1_000400 - PubMed: Li 2019, Journal: Li 2019 - rs66490707 Unknown - - - - - DNA PCR, SEQ - - OI, OI4 - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/? 19i c.1299+1G>A r.? - splicing affected? - Unknown - VUS g.48272592C>T - - - COL1A1_000400 - PubMed: Li 2019, Journal: Li 2019 - rs66490707 Unknown - - - - - DNA PCR, SEQ - - OI, OI1 - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/+ 19i c.1299+1G>A r.? - splicing affected? - Unknown - VUS g.48272592C>T - - - COL1A1_000400 - PubMed: Zhang et al., 2017 - rs66490707 Unknown - - - - - DNA SEQ - - - - - - - - - - - - - - - -
+/+ 19i c.1299+1G>A r.? - splicing affected? - Unknown - VUS g.48272592C>T - - - COL1A1_000400 - PubMed: Zhang et al., 2017 - rs66490707 Unknown - - - - - DNA SEQ - - - - - - - - - - - - - - - -
+/. 19i c.1299+1G>A r.spl p.? - - Unknown - pathogenic (dominant) g.48272592C>T g.50195231C>T - - COL1A1_000400 Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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