Full data view for gene COL1A1


Osteogenesis Imperfecta Variant Database

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

34 entries on 1 page. Showing entries 1 - 34.
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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     
+?/. 20i c.1354-12G>A r.spl p.(=) - - Parent #1 - likely pathogenic g.48272201C>T g.50194840C>T - - COL1A1_000402 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline yes - - - - DNA SEQ - - OI AN_004393 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+?/. 20i c.1354-12G>A r.spl p.(=) - - Parent #1 - likely pathogenic g.48272201C>T g.50194840C>T - - COL1A1_000402 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline yes - - - - DNA SEQ - - OI AN_004394 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+?/. 20i c.1354-12G>A r.spl p.(=) - - Parent #1 - likely pathogenic g.48272201C>T g.50194840C>T - - COL1A1_000402 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline yes - - - - DNA SEQ - - OI AN_004395 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+?/. 20i c.1354-12G>A r.spl p.(=) - - Parent #1 - likely pathogenic g.48272201C>T g.50194840C>T - - COL1A1_000402 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline yes - - - - DNA SEQ - - OI AN_004396 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+?/. 20i c.1354-12G>A r.spl p.(=) - - Parent #1 - likely pathogenic g.48272201C>T g.50194840C>T - - COL1A1_000402 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline/De novo (untested) - - - - - DNA SEQ - - OI AN_004397 PubMed: Schleit 2015, Journal: Schleit 2015 no family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+?/. 20i c.1354-12G>A r.spl p.(=) - - Parent #1 - likely pathogenic g.48272201C>T g.50194840C>T - - COL1A1_000402 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline yes - - - - DNA SEQ - - OI AN_004398 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+?/. 20i c.1354-12G>A r.spl p.(=) - - Parent #1 - likely pathogenic g.48272201C>T g.50194840C>T - - COL1A1_000402 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline yes - - - - DNA SEQ - - OI AN_004399 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+?/. 20i c.1354-12G>A r.spl p.(=) - - Parent #1 - likely pathogenic g.48272201C>T g.50194840C>T - - COL1A1_000402 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline yes - - - - DNA SEQ - - OI AN_004400 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+?/. 20i c.1354-12G>A r.spl p.(=) - - Parent #1 - likely pathogenic g.48272201C>T g.50194840C>T - - COL1A1_000402 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline - - - - - DNA SEQ - - OI AN_004401 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - - - - 1 Global Variome, with Curator vacancy
+?/. 20i c.1354-12G>A r.spl p.(=) - - Parent #1 - likely pathogenic g.48272201C>T g.50194840C>T - - COL1A1_000402 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline - - - - - DNA SEQ - - OI AN_004402 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - - - - 1 Global Variome, with Curator vacancy
+?/. 20i c.1354-12G>A r.spl p.(=) - - Parent #1 - likely pathogenic g.48272201C>T g.50194840C>T - - COL1A1_000402 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline yes - - - - DNA SEQ - - OI AN_004404 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+?/. 20i c.1354-12G>A r.spl p.(=) - - Parent #1 - likely pathogenic g.48272201C>T g.50194840C>T - - COL1A1_000402 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline yes - - - - DNA SEQ - - OI AN_004405 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+?/. 20i c.1354-12G>A r.spl p.(=) - - Parent #1 - likely pathogenic g.48272201C>T g.50194840C>T - - COL1A1_000402 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline yes - - - - DNA SEQ - - OI AN_004406 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+?/. 20i c.1354-12G>A r.spl p.(=) - - Parent #1 - likely pathogenic g.48272201C>T g.50194840C>T - - COL1A1_000402 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline yes - - - - DNA SEQ - - OI AN_004407 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+?/. 20i c.1354-12G>A r.spl p.(=) - - Parent #1 - likely pathogenic g.48272201C>T g.50194840C>T - - COL1A1_000402 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline yes - - - - DNA SEQ - - OI AN_004408 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+?/. 20i c.1354-12G>A r.spl p.(=) - - Parent #1 - likely pathogenic g.48272201C>T g.50194840C>T - - COL1A1_000402 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline yes - - - - DNA SEQ - - OI AN_004409 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - - - - 1 Global Variome, with Curator vacancy
+/. 20i c.1354-12G>A r.spl p.(=) - - Paternal (confirmed) - likely pathogenic g.48272201C>T g.50194840C>T - - COL1A1_000402 - - - - Germline yes - - - - DNA SEQ, SEQ-NG-I blood gene panel OI1, SSOAOD III-11 - - M no China chinese >08y - yes alendronate 13 Wenjuan Qiu
+/. 20i c.1354-12G>A r.spl p.(=) - - Paternal (confirmed) - likely pathogenic g.48272201C>T g.50194840C>T - - COL1A1_000402 - - - - Germline yes - - - - DNA SEQ blood - OI1, SSOAOD III-9 - - F no China chinese - - yes - 1 Wenjuan Qiu
+/+ 20i c.1354-12G>A r.spl p.(=) - - Unknown - likely pathogenic g.48272201C>T g.50194840C>T - - COL1A1_000402 - - - - Germline yes - - - - DNA SEQ blood - OI1 lsz - - F no China chinese - - yes - 1 Wenjuan Qiu
+/+ 20i c.1354-12G>A r.spl p.(=) - - Unknown - likely pathogenic g.48272201C>T g.50194840C>T - - COL1A1_000402 - - - - Germline yes - - - - DNA SEQ blood - OI1 lsz - - F no China chinese - - yes - 1 Wenjuan Qiu
+/+ 20i c.1354-12G>A r.spl p.(=) - - Unknown - likely pathogenic g.48272201C>T g.50194840C>T - - COL1A1_000402 - - - - Germline yes - - - - DNA SEQ blood - OI1 I-2 - - F no China chinese - - yes - 1 Wenjuan Qiu
+/+ 20i c.1354-12G>A r.spl p.(=) - - Maternal (confirmed) - likely pathogenic g.48272201C>T g.50194840C>T - - COL1A1_000402 - - - - Germline yes - - - - DNA SEQ blood - OI1 II-1 - - M no China chinese - - yes - 1 Wenjuan Qiu
+/+ 20i c.1354-12G>A r.spl p.(=) - - Maternal (confirmed) - likely pathogenic g.48272201C>T g.50194840C>T - - COL1A1_000402 - - - - Germline yes - - - - DNA SEQ blood - OI1 II-5 - - M no China chinese - - yes - 1 Wenjuan Qiu
+/+ 20i c.1354-12G>A r.spl p.(=) - - Paternal (confirmed) - likely pathogenic g.48272201C>T g.50194840C>T - - COL1A1_000402 - - - - Germline yes - - - - DNA SEQ blood - OI1 III-1 - - M no China chinese - - yes - 1 Wenjuan Qiu
+/+ 20i c.1354-12G>A r.(=) p.(=) splicing affected? - Unknown - pathogenic g.48272201C>T g.50194840C>T - - COL1A1_000402 - PubMed: Körkkö et al., 1998 - rs72648337 Unknown - - - - - DNA PCR, SEQ, CSGE - - OI, OI1 - PubMed: Körkkö et al., 1998 - - - - - - - - - 1 Raymond Dalgleish
+/+ 20i c.1354-12G>A r.(=) p.(=) splicing affected? - Unknown - pathogenic g.48272201C>T g.50194840C>T - - COL1A1_000402 - PubMed: Marini et al., 2007 (De Paepe, personal communication) - rs72648337 Unknown - - - - - ? ? - - OI, OI1 - PubMed: Marini et al., 2007 (De Paepe, personal communication) Null allele. - - - - - - - - 1 Raymond Dalgleish
+/+ 20i c.1354-12G>A r.(=) p.(=) splicing affected? - Unknown - pathogenic g.48272201C>T g.50194840C>T - - COL1A1_000402 - - - rs72648337 Unknown - - - - - DNA PCR, SEQ - - OI, OI1 - - - - - - - - - - - 1 Sofie Symoens
+/+ 20i c.1354-12G>A r.(=) p.(=) splicing affected? - Unknown - pathogenic g.48272201C>T g.50194840C>T - - COL1A1_000402 - PubMed: Lindahl et al., 2015 - rs72648337 Unknown - - - - - DNA PCR, SEQ - - OI, OI1 - PubMed: Lindahl et al., 2015 Splice mutation c.1354-12G>A not found in either of patient's healthy parents - - - Swedish - - - - 1 Katarina Lindahl
+/+ 20i c.1354-12G>A r.(=) p.(=) splicing affected? - Unknown - pathogenic g.48272201C>T g.50194840C>T - - COL1A1_000402 - PubMed: Lin et al., 2015 - rs72648337 Unknown - - - - - DNA PCR, SEQ - - OI, OI1 - PubMed: Lin et al., 2015 - - - - Taiwanese - - - - 1 Raymond Dalgleish
+/? 20i c.1354-12G>A r.(1353_1354ins1354-10_1354-1) p.(Gly452Profs*26) splicing affected? - Paternal (confirmed) - VUS g.48272201C>T - - - COL1A1_000402 effect on splicing predicted from mini gene splicing assay PubMed: Li 2019, Journal: Li 2019 - rs72648337 Unknown - - - - - DNA PCR, SEQ, SEQ-NG - custom gene panel OI, OI1 - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/? 20i c.1354-12G>A r.? - splicing affected? - Unknown - VUS g.48272201C>T - - - COL1A1_000402 - PubMed: Li 2019, Journal: Li 2019 - rs72648337 Unknown - - - - - DNA PCR, SEQ - - OI, OI1 - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+?/. 20i c.1354-12G>A r.(1353_1354ins1354-10_1354-1) p.(Gly452Profs*26) - - Unknown - likely pathogenic g.48272201C>T g.50194840C>T - - COL1A1_000402 intronic variant, effect on splicing indicated from mini-gene splicing assay - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1354-12G>A r.spl p.? - - Unknown - pathogenic (dominant) g.48272201C>T - - - COL1A1_000402 - PubMed: Nadyrshina 2022 - - Germline yes - - - - DNA SEQ-NG whole venous blood - OI1 Pat22 PubMed: Nadyrshina 2022 - M ? Russia - >10y - - - 2 Kim Worring
+/. - c.1354-12G>A r.spl p.? - - Unknown - pathogenic (dominant) g.48272201C>T - - - COL1A1_000402 - PubMed: Nadyrshina 2022 - - Germline yes - - - - DNA SEQ-NG whole venous blood - OI1 Pat23 PubMed: Nadyrshina 2022 - F ? Russia - >36y - - - 1 Kim Worring
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