Full data view for gene COL1A1


Osteogenesis Imperfecta Variant Database

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

33 entries on 1 page. Showing entries 1 - 33.
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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.579del r.(?) p.(Gly194Valfs*71) frameshift - Maternal (confirmed) - pathogenic g.48275531del g.50198170del - - COL1A1_000293 - - - - Germline yes - - - - DNA SEQ-NG-I - - OI1 - - - - - Portugal - - - - - 1 Andre Travessa
+/+ 7 c.579del r.(?) p.(Gly194Valfs*71) frameshift - Unknown - pathogenic g.48275531del g.50198170del - - COL1A1_000293 - PubMed: Venturi et al., 2006 {ClinVar35925} rs72667023 Unknown - - - - - DNA PCR, SEQ - - OI, OI1 - PubMed: Venturi et al., 2006 - - - - - - - - - 1 Raymond Dalgleish
+/+ 7 c.579del r.(?) p.(Gly194Valfs*71) frameshift - Unknown - pathogenic g.48275531del g.50198170del - - COL1A1_000293 - - {ClinVar35925} rs72667023 Unknown - - - - - DNA DHPLC, SEQ - - OI, OI1 - - - - - - - - - - - 1 Margherita Maioli
+/+ 7 c.579del r.(?) p.(Gly194Valfs*71) frameshift - Unknown - pathogenic g.48275531del g.50198170del - - COL1A1_000293 - PubMed: Swinnen et al., 2009 {ClinVar35925} rs72667023 Unknown - - - - - DNA PCR, SEQ - - OI, OI1 - PubMed: Swinnen et al., 2009 The patient's frameshift is incorrectly described in the paper but the corrected details have been confirmed with the authors, as has the specific OI type. - - - - - - - - 1 Raymond Dalgleish
+/+ 7 c.579del r.(?) p.(Gly194Valfs*71) frameshift - Unknown - pathogenic g.48275531del g.50198170del - - COL1A1_000293 - - {ClinVar35925} rs72667023 Unknown - - - - - DNA SEQ - - OI, OI1 - - - - - - white - - - - 1 Javier Garcia-Planells
+/+ 7 c.579del r.(?) p.(Gly194Valfs*71) frameshift - Maternal (confirmed) - pathogenic g.48275531del g.50198170del - - COL1A1_000293 - - {ClinVar35925} rs72667023 Unknown - - - - - DNA SEQ - - OI, OI1 - - - - - - white - - - - 1 Javier Garcia-Planells
+/+ 7 c.579del r.(?) p.(Gly194Valfs*71) frameshift - Unknown - pathogenic g.48275531del g.50198170del - - COL1A1_000293 - Nadyrshina et al., 2012 Russ J Genet 48:321-328. PubMed: Nadyrshina et al., 2012 {ClinVar35925} rs72667023 Unknown - - - - - DNA SEQ - - OI, OI1 - Nadyrshina et al., 2012 Russ J Genet 48:321-328. PubMed: Nadyrshina et al., 2012 - - - - Tatar - - - - 1 Dina Nadyrshina
+/+ 7 c.579del r.(?) p.(Gly194Valfs*71) frameshift - Unknown - pathogenic g.48275531del g.50198170del - - COL1A1_000293 - PubMed: Zhang et al., 2011 {ClinVar35925} rs72667023 Unknown - - - - - DNA PCR, SEQ - - OI, OI1 - PubMed: Zhang et al., 2011 - - - - Han Chinese - - - - 1 Raymond Dalgleish
+/+ 7 c.579del r.(?) p.(Gly194Valfs*71) frameshift - Paternal (confirmed) - pathogenic g.48275531del g.50198170del - - COL1A1_000293 - - {ClinVar35925} rs72667023 Unknown - - - - - DNA DHPLC, SEQ - - OI, OI1 - - - - - - - - - - - 1 Margherita Maioli
+/+ 7 c.579del r.(?) p.(Gly194Valfs*71) frameshift - Unknown - pathogenic g.48275531del g.50198170del - - COL1A1_000293 - PubMed: Fuccio et al., 2011 {ClinVar35925} rs72667023 Unknown - - - - - DNA DHPLC, PCR, SEQ - - OI, OI1 - PubMed: Fuccio et al., 2011 Although the OI type is not recorded in the publication, the authors have provided this information subsequently. - - - - - - - - 1 Raymond Dalgleish
+/+ 7 c.579del r.(?) p.(Gly194Valfs*71) frameshift - Unknown - pathogenic g.48275531del g.50198170del - - COL1A1_000293 - - {ClinVar35925} rs72667023 Unknown - - - - - DNA DHPLC, SEQ - - OI, OI1 - - - - - - - - - - - 1 Margherita Maioli
+/+ 7 c.579del r.(?) p.(Gly194Valfs*71) frameshift - Maternal (inferred) - pathogenic g.48275531del g.50198170del - - COL1A1_000293 - PubMed: Lindahl et al., 2015 {ClinVar35925} rs72667023 Unknown - - - - - DNA PCR - - OI, OI1 - PubMed: Lindahl et al., 2015 - - - - Swedish - - - - 1 Katarina Lindahl
+/+ 7 c.579del r.(?) p.(Gly194Valfs*71) frameshift - Maternal (confirmed) - pathogenic g.48275531del g.50198170del - - COL1A1_000293 - PubMed: Lindahl et al., 2015 {ClinVar35925} rs72667023 Unknown - - - - - DNA PCR, SEQ - - OI, OI1 - PubMed: Lindahl et al., 2015 - - - - Swedish - - - - 1 Katarina Lindahl
+/+ 7 c.579del r.(?) p.(Gly194Valfs*71) frameshift - Maternal (inferred) - pathogenic g.48275531del g.50198170del - - COL1A1_000293 - PubMed: Lindahl et al., 2015 {ClinVar35925} rs72667023 Unknown - - - - - DNA PCR, SEQ - - OI, OI1 - PubMed: Lindahl et al., 2015 - - - - Swedish - - - - 1 Katarina Lindahl
+/+ 7 c.579del r.(?) p.(Gly194Valfs*71) frameshift - Maternal (confirmed) - pathogenic g.48275531del g.50198170del - - COL1A1_000293 - PubMed: Lindahl et al., 2015 {ClinVar35925} rs72667023 Unknown - - - - - DNA PCR, SEQ - - OI, OI1 - PubMed: Lindahl et al., 2015 - - - - Swedish - - - - 1 Katarina Lindahl
+/+ 7 c.579del r.(?) p.(Gly194Valfs*71) frameshift - Maternal (confirmed) - pathogenic g.48275531del g.50198170del - - COL1A1_000293 - PubMed: Lindahl et al., 2015 {ClinVar35925} rs72667023 Unknown - - - - - DNA PCR, SEQ - - OI, OI1 - PubMed: Lindahl et al., 2015 - - - - Swedish - - - - 1 Katarina Lindahl
+/+ 7 c.579del r.(?) p.(Gly194Valfs*71) frameshift - Maternal (inferred) - pathogenic g.48275531del g.50198170del - - COL1A1_000293 - PubMed: Lindahl et al., 2015 {ClinVar35925} rs72667023 Unknown - - - - - DNA PCR, SEQ - - OI, OI1 - PubMed: Lindahl et al., 2015 - - - - Swedish - - - - 1 Katarina Lindahl
+/+ 7 c.579del r.(?) p.(Gly194Valfs*71) frameshift - Maternal (inferred) - pathogenic g.48275531del g.50198170del - - COL1A1_000293 - PubMed: Lindahl et al., 2015 {ClinVar35925} rs72667023 Unknown - - - - - DNA PCR, SEQ - - OI, OI1 - PubMed: Lindahl et al., 2015 - - - - Swedish - - - - 1 Katarina Lindahl
+/+ 7 c.579del r.(?) p.(Gly194Valfs*71) frameshift - Paternal (inferred) - pathogenic g.48275531del g.50198170del - - COL1A1_000293 - PubMed: Lindahl et al., 2015 {ClinVar35925} rs72667023 Unknown - - - - - DNA PCR, SEQ - - OI, OI1 - PubMed: Lindahl et al., 2015 - - - - Swedish - - - - 1 Katarina Lindahl
+/+ 7 c.579del r.(?) p.(Gly194Valfs*71) frameshift - Unknown - pathogenic g.48275531del g.50198170del - - COL1A1_000293 - PubMed: Lin et al., 2015 {ClinVar35925} rs72667023 Unknown - - - - - DNA PCR, SEQ - - OI, OI1 - PubMed: Lin et al., 2015 The protein-level consequence of the variant is incorrectly reported as p. Pro193Profs*72. - - - Taiwanese - - - - 1 Raymond Dalgleish
+/+ 7 c.579del r.(?) p.(Gly194Valfs*71) frameshift - Paternal (confirmed) - pathogenic g.48275531del g.50198170del - - COL1A1_000293 - - {ClinVar35925} rs72667023 Unknown - - - - - DNA MCA, SEQ - - OI, OI1 - - - - - - - - - - - 1 Margherita Maioli
+/+ 7 c.579del r.(?) p.(Gly194Valfs*71) frameshift - Unknown - pathogenic g.48275531del g.50198170del - - COL1A1_000293 - - {ClinVar35925} rs72667023 Unknown - - - - - DNA SEQ - - OI, OI1 - - - - - - - - - - - 1 Margherita Maioli
+/+ 7 c.579del r.(?) p.(Gly194Valfs*71) frameshift - Unknown - pathogenic g.48275531del g.50198170del - - COL1A1_000293 - - {ClinVar35925} rs72667023 Unknown - - - - - DNA MCA, SEQ - - OI, OI1 - - - - - - - - - - - 1 Margherita Maioli
+/+ 7 c.579del r.(?) p.(Gly194Valfs*71) frameshift - Unknown - pathogenic g.48275531del g.50198170del - - COL1A1_000293 - PubMed: Rolvien et al., 2018 {ClinVar35925} rs72667023 Unknown - - - - - DNA PCR, SEQ - - OI, OI1 - PubMed: Rolvien et al., 2018 The DNA-level variant data and OI phenotype were provided by Dr Tim Rolvien. - - - - - - - - 1 Raymond Dalgleish
+/+ 7 c.579del r.(?) p.(Gly194Valfs*71) frameshift - Unknown - pathogenic g.48275531del g.50198170del - - COL1A1_000293 - PubMed: Zhang et al., 2017 {ClinVar35925} rs72667023 Unknown - - - - - DNA SEQ - - OI, OI1 - PubMed: Zhang et al., 2017 - - - - Han Chinese - - - - 1 Raymond Dalgleish
+/+ 7 c.579del r.(?) p.(Gly194Valfs*71) frameshift - Unknown - pathogenic g.48275531del g.50198170del - - COL1A1_000293 - PubMed: Zhytnik 2019 {ClinVar35925} rs72667023 Germline/De novo (untested) - - - - - DNA PCR, SEQ - - OI, OI1 UA14 PubMed: Zhytnik 2019 - - - Ukraine - - - - - 1 Lidiia Zhytnik
+/. 7 c.579del r.(?) p.(Gly194ValfsTer71) - - Unknown - pathogenic (dominant) g.48275531del g.50198170del - - COL1A1_000293 all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.579del r.(?) p.(Gly194ValfsTer71) - - Unknown ACMG pathogenic (dominant) g.48275531del g.50198170del 579delT - COL1A1_000293 - PubMed: Yamaguti 2023, Journal: Yamaguti 2023 - - Germline - - - - - DNA SEQ-NG - - OI BR2022-02 PubMed: Yamaguti 2023, Journal: Yamaguti 2023 - F - Brazil - - - - - 1 Juliana Mazzeu
+/. - c.579del r.(?) p.(Gly194Valfs*71) - - Maternal (confirmed) - pathogenic (dominant) g.48275531del g.50198170del 579delT - COL1A1_000293 - PubMed: Nadyrshina 2022 - - Germline yes - - - - DNA SEQ-NG whole venous blood - OI1 Pat5 PubMed: Nadyrshina 2022 2-generation family, 2 affected, son and mother (Pat6) M ? Russia Tatar ethnicity >26y - - - 2 Kim Worring
+/. - c.579del r.(?) p.(Gly194Valfs*71) deletion - Unknown - pathogenic (dominant) g.48275531del g.50198170del - - COL1A1_000293 - PubMed: Nadyrshina 2022 - - Germline - - - - - DNA SEQ-NG whole venous blood - OI1 Pat6 PubMed: Nadyrshina 2022 - F ? Russia Tatar ethnicity >59y - - - 1 Kim Worring
+/+ - c.579del r.(?) p.(Gly194Valfs*71) frameshift - Unknown - pathogenic g.48275531del - - - COL1A1_000293 Frameshift in COL1A1 is classified as pathogenic PubMed: Nadyrshina 2022 35925 - De novo - - - - - DNA SEQ-NG whole venous blood - OI1 Pat4 PubMed: Nadyrshina 2022 - M ? Russia Tatar ethnicity >19y - - - 1 Kim Worring
+/. - c.579del r.(?) p.(Gly194ValfsTer71) - - Unknown - pathogenic g.48275531del - - - COL1A1_000293 - - - rs72667023 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.579del r.(?) p.(Gly194ValfsTer71) - - Parent #1 - pathogenic g.48275531del g.50198170del 579delT - COL1A1_000293 ACMG PM2, PP3, BP1 PubMed: Tuysuz 2022 VCV000035925.5 - Germline - - - - - DNA SEQ, SEQ-NG - gene panel OI Pat3 PubMed: Tuysuz 2022 - - - Turkey - - - - - 1 Johan den Dunnen
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