Full data view for gene COL1A1


Osteogenesis Imperfecta Variant Database

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

21 entries on 1 page. Showing entries 1 - 21.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

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Owner     
-?/. - c.613C>G r.(?) p.(Pro205Ala) - - Unknown - likely benign g.48275339G>C g.50197978G>C COL1A1(NM_000088.3):c.613C>G (p.P205A, p.(Pro205Ala)) - COL1A1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.613C>G r.(?) p.(Pro205Ala) - - Unknown - likely benign g.48275339G>C g.50197978G>C COL1A1(NM_000088.3):c.613C>G (p.P205A, p.(Pro205Ala)) - COL1A1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 8 c.613C>G r.(?) p.(Pro205Ala) missense Pro27Ala Unknown - pathogenic g.48275339G>C g.50197978G>C - - COL1A1_000010 - PubMed: Spotila et al., 1994 - rs72667032 Unknown - - - - - RNA SEQ - - ? - PubMed: Spotila et al., 1994 - - - - - - - - - 1 Raymond Dalgleish
+/+ 8 c.613C>G r.(?) p.(Pro205Ala) missense Pro27Ala Unknown - pathogenic g.48275339G>C g.50197978G>C - - COL1A1_000010 - PubMed: Spotila et al., 1994 - rs72667032 Unknown - - - - - RNA SEQ - - ? - PubMed: Spotila et al., 1994 - - - - - - - - - 1 Raymond Dalgleish
+/+? 8 c.613C>G r.(?) p.(Pro205Ala) missense Pro27Ala Unknown - likely pathogenic g.48275339G>C g.50197978G>C - - COL1A1_000010 - PubMed: Pollitt et al., 2006 - rs72667032 Unknown - - - - - DNA PCR, SEQ - - OI, OI2 - PubMed: Pollitt et al., 2006 The patient harbours the g.36436A>G splice site mutation in COL1A2 and the c.613C>G (p.Pro205Ala) missense mutation in COL1A1. - - - - - - - - 1 Raymond Dalgleish
+/+ 8 c.613C>G r.(?) p.(Pro205Ala) missense Pro27Ala Unknown - pathogenic g.48275339G>C g.50197978G>C - - COL1A1_000010 The patient and variant were presented as a poster (3124/F/Poster Board #1056) at the ASHG 2009 conference. - - rs72667032 Unknown - - - - - ? ? - - OI - - The patient and variant were presented as a poster (3124/F/Poster Board #1056) at the ASHG 2009 conference. The patient is described as having variant osteogenesis imperfecta and juvenile osteoporosis. - - - - - - - - 1 Raymond Dalgleish
-/? 8 c.613C>G r.(?) p.(Pro205Ala) missense Pro27Ala Unknown - VUS g.48275339G>C g.50197978G>C - - COL1A1_000010 - - - rs72667032 Unknown - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Isabel Mandy Nesbitt
-?/-? 8 c.613C>G r.(?) p.(Pro205Ala) missense Pro27Ala Unknown - benign g.48275339G>C g.50197978G>C - - COL1A1_000010 - - - rs72667032 Unknown - - - - - DNA SEQ - - osteoporosis - - Family studies showed this change to be present in affected and unaffected individuals. - - - - - - - - 1 Isabel Mandy Nesbitt
?/+ 8 c.613C>G r.(?) p.(Pro205Ala) missense Pro27Ala Both (homozygous) - likely pathogenic g.48275339G>C g.50197978G>C - - COL1A1_000010 - PubMed: Shaheen et al., 2010 - rs72667032 Unknown - - - - - DNA PCR, SEQ - - BRKS - PubMed: Shaheen et al., 2010 The FKBP10 variant in this patient is incorrectly described by Shaheen et al. as c.1023insGGAGAATT and p.Tyr342Glyfs*367. The patient is also homozygous for the COL1A1 variant c.613C>G, though any contribution of this variant to the phenotype is not clear.This patient's family has the ID OI_F10 ({PMID23054245:Shaheen et al., 2012}). - - - Saudi Arabian - - - - 1 Raymond Dalgleish
+/+ 8 c.613C>G r.(?) p.(Pro205Ala) missense Pro27Ala Unknown - pathogenic g.48275339G>C g.50197978G>C - - COL1A1_000010 - - - rs72667032 Unknown - - - - - DNA PCR, SEQ - - OI, OI4 - - - - - - Chinese - - - - 1 Yanqin Lu
+/+ 8 c.613C>G r.(?) p.(Pro205Ala) missense Pro27Ala Unknown - pathogenic g.48275339G>C g.50197978G>C - - COL1A1_000010 - - - rs72667032 Unknown - - - - - DNA PCR, SEQ - - OI - - - - - - Chinese - - - - 1 Yanqin Lu
?/-? 8 c.613C>G r.(?) p.(Pro205Ala) missense Pro27Ala Maternal (confirmed) - VUS g.48275339G>C g.50197978G>C - - COL1A1_000010 - PubMed: Lindahl et al., 2015 - rs72667032 Unknown - - - - - DNA PCR - - OI, OI1 - PubMed: Lindahl et al., 2015 - - - - Swedish - - - - 1 Katarina Lindahl
?/-? 8 c.613C>G r.(?) p.(Pro205Ala) missense Pro27Ala Unknown - VUS g.48275339G>C g.50197978G>C - - COL1A1_000010 - PubMed: Lindahl et al., 2015 - rs72667032 Unknown - - - - - DNA PCR - - OI, OI1 - PubMed: Lindahl et al., 2015 - - - - Swedish - - - - 1 Katarina Lindahl
-/-? 8 c.613C>G r.(?) p.(Pro205Ala) missense Pro27Ala Unknown - likely benign g.48275339G>C g.50197978G>C - - COL1A1_000010 - PubMed: Lindahl et al., 2015 - rs72667032 Unknown - - - - - DNA PCR, SEQ - - OI, OI4 - PubMed: Lindahl et al., 2015 - - - - Swedish - - - - 1 Katarina Lindahl
-/- 8 c.613C>G r.(?) p.(Pro205Ala) missense Pro27Ala Unknown - likely benign g.48275339G>C g.50197978G>C - - COL1A1_000010 - PubMed: Lindahl et al., 2015 - rs72667032 Unknown - - - - - DNA PCR, SEQ - - OI, OI1 - PubMed: Lindahl et al., 2015 This variant (c.613C>G) assessed not to cause patient's OI type I. Not known if this variant influences phenotype. - - - Swedish - - - - 1 Katarina Lindahl
+/+ 8 c.613C>G r.(?) p.(Pro205Ala) missense Pro27Ala Unknown - pathogenic g.48275339G>C g.50197978G>C - - COL1A1_000010 - PubMed: Rolvien et al., 2018 - rs72667032 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
+?/+? 8 c.613C>G r.(?) p.(Pro205Ala) missense Pro27Ala Unknown - likely pathogenic g.48275339G>C g.50197978G>C - - COL1A1_000010 - PubMed: Li 2019, Journal: Li 2019 - rs72667032 Unknown - - - - - DNA PCR, SEQ - - OI, OI3 PUMC-9 PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
-/. - c.613C>G r.(?) p.(Pro205Ala) - - Unknown - benign g.48275339G>C - COL1A1(NM_000088.3):c.613C>G (p.P205A, p.(Pro205Ala)) - COL1A1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 8 c.613C>G r.(?) p.(Pro205Ala) missense Pro27Ala Unknown - likely pathogenic (dominant) g.48275339G>C g.50197978G>C C 613 C>G and as c.613Gp.P205A - COL1A1_000010 - PubMed: Datta et al., 2021 Journal: Datta et al., 2021 - - Germline yes - - - - DNA SEQ blood - osteoporosis II:1 PubMed: Datta et al., 2021 Journal: Datta et al., 2021 The daughter of the index case also harbours the same COL1A1 sequence variant. The mother and elder brother of the index case both have osteoporosis, F - - white - - - - 4 Raymond Dalgleish
-?/. - c.613C>G r.(?) p.(Pro205Ala) - - Unknown - likely benign g.48275339G>C - COL1A1(NM_000088.3):c.613C>G (p.P205A, p.(Pro205Ala)) - COL1A1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.613C>G r.(?) p.(Pro205Ala) - - Unknown - likely pathogenic g.48275339G>C g.50197978G>C - - COL1A1_000010 ACMG PVS1, PM2, PP3, PP5, PM6 PubMed: Tuysuz 2022 VCV000218424.7 - De novo - - - - - DNA SEQ, SEQ-NG - gene panel OI Pat7 PubMed: Tuysuz 2022 - - - Turkey - - - - - 1 Johan den Dunnen
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