Full data view for gene COL1A1


Osteogenesis Imperfecta Variant Database

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

19 entries on 1 page. Showing entries 1 - 19.
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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.994G>A r.(?) p.(Gly332Arg) - - Parent #1 - pathogenic g.48273524C>T g.50196163C>T - - COL1A1_000046 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs72645357 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. 15 c.994G>A r.(?) p.(Gly332Arg) - - Parent #1 - pathogenic (dominant) g.48273524C>T g.50196163C>T - - COL1A1_000046 - PubMed: Liu 2017 - - Germline - 1/101 cases OI - - - DNA SEQ-NG - targeted 14-gene panel OI OI Fam45 PubMed: Liu 2017 analysis 101 unrelated OI families M - China - - - - - 1 Johan den Dunnen
+/+ 15 c.994G>A r.(?) p.(Gly332Arg) missense Gly154Arg Unknown - pathogenic g.48273524C>T g.50196163C>T - - COL1A1_000046 - PubMed: Pruchno et al., 1991 - rs72645357 Unknown - - - - - RNA SEQ - - OI, OI3 - PubMed: Pruchno et al., 1991 - - - - - - - - - 1 Peter Byers
+/+ 15 c.994G>A r.(?) p.(Gly332Arg) missense Gly154Arg Unknown - pathogenic g.48273524C>T g.50196163C>T - - COL1A1_000046 - PubMed: Pruchno et al., 1991 - rs72645357 Unknown - - - - - RNA SEQ - - OI, OI3 - PubMed: Pruchno et al., 1991 - - - - - - - - - 1 Peter Byers
+/+ 15 c.994G>A r.(?) p.(Gly332Arg) missense Gly154Arg Unknown - pathogenic g.48273524C>T g.50196163C>T - - COL1A1_000046 - PubMed: Zhuang et al., 1996 - rs72645357 Unknown - - - - - RNA SEQ - - OI, OI1 - PubMed: Zhuang et al., 1996 - - - - - - - - - 1 Raymond Dalgleish
+/+ 15 c.994G>A r.(?) p.(Gly332Arg) missense Gly154Arg Unknown - pathogenic g.48273524C>T g.50196163C>T - - COL1A1_000046 - PubMed: Marini et al., 2007 (Byers, personal communication) - rs72645357 Unknown - - - - - ? ? - - OI, OI3, OI4 - PubMed: Marini et al., 2007 (Byers, personal communication) - - - - - - - - - 1 Peter Byers
+/+ 15 c.994G>A r.(?) p.(Gly332Arg) missense Gly154Arg Unknown - pathogenic g.48273524C>T g.50196163C>T - - COL1A1_000046 - PubMed: Marini et al., 2007 (Byers, personal communication) - rs72645357 Unknown - - - - - ? ? - - OI, OI3 - PubMed: Marini et al., 2007 (Byers, personal communication) - - - - - - - - - 1 Peter Byers
+/+ 15 c.994G>A r.(?) p.(Gly332Arg) missense Gly154Arg Unknown - pathogenic g.48273524C>T g.50196163C>T - - COL1A1_000046 - PubMed: Marini et al., 2007 (Byers, personal communication) - rs72645357 Unknown - - - - - ? ? - - OI, OI3 - PubMed: Marini et al., 2007 (Byers, personal communication) - - - - - - - - - 1 Peter Byers
+/+ 15 c.994G>A r.(?) p.(Gly332Arg) missense Gly154Arg Unknown - pathogenic g.48273524C>T g.50196163C>T - - COL1A1_000046 - PubMed: Marini et al., 2007 (Körkkö and Prockop, personal communication) - rs72645357 Unknown - - - - - ? ? - - OI, OI3, OI4 - PubMed: Marini et al., 2007 (Körkkö and Prockop, personal communication) - - - - - - - - - 1 Raymond Dalgleish
+/+ 15 c.994G>A r.(?) p.(Gly332Arg) missense Gly154Arg Unknown - pathogenic g.48273524C>T g.50196163C>T - - COL1A1_000046 - PubMed: Marini et al., 2007 (Marini and Cabral, personal communication) - rs72645357 Unknown - - - - - ? ? - - OI, OI4 - PubMed: Marini et al., 2007 (Marini and Cabral, personal communication) - - - - - - - - - 1 Raymond Dalgleish
+/+ 15 c.994G>A r.(?) p.(Gly332Arg) missense Gly154Arg Unknown - pathogenic g.48273524C>T g.50196163C>T - - COL1A1_000046 - - - rs72645357 Unknown - - - - - DNA SEQ - - OI, OI3 - - - - - - - - - - - 1 Isabel Mandy Nesbitt
+/+ 15 c.994G>A r.(?) p.(Gly332Arg) missense Gly154Arg Unknown - pathogenic g.48273524C>T g.50196163C>T - - COL1A1_000046 - PubMed: Lindahl et al., 2015 - rs72645357 Unknown - - - - - DNA PCR - - OI, OI3 - PubMed: Lindahl et al., 2015 - - - - Swedish - - - - 1 Katarina Lindahl
+/+ 15 c.994G>A r.(?) p.(Gly332Arg) missense Gly154Arg Unknown - pathogenic g.48273524C>T g.50196163C>T - - COL1A1_000046 - PubMed: Lindahl et al., 2015 - rs72645357 Unknown - - - - - DNA PCR, SEQ - - OI, OI4 - PubMed: Lindahl et al., 2015 - - - - Swedish - - - - 1 Katarina Lindahl
+/+ 15 c.994G>A r.(?) p.(Gly332Arg) missense Gly154Arg Unknown - pathogenic g.48273524C>T g.50196163C>T - - COL1A1_000046 - - - rs72645357 Unknown - - - - - DNA MCA, SEQ - - OI, OI3 - - - - - - - - - - - 1 Margherita Maioli
+/? 15 c.994G>A r.? p.(Gly332Arg) missense Gly154Arg Unknown - VUS g.48273524C>T - - - COL1A1_000046 - PubMed: Li 2019, Journal: Li 2019 - rs72645357 Unknown - - - - - DNA PCR, SEQ - - OI, OI4 - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/+ 15 c.994G>A r.(?) p.(Gly332Arg) missense Gly154Arg Unknown - pathogenic g.48273524C>T g.50196163C>T - - COL1A1_000046 - PubMed: Mohd Nawawi et al., 2018 - rs72645357 Unknown - - - - - DNA SEQ-NG - - OI, OI1 - PubMed: Mohd Nawawi et al., 2018 The technique used was the custom Gene panel - - - Malaysian - - - - 1 Raymond Dalgleish
+/. 15 c.994G>A r.(?) p.(Gly332Arg) - - Unknown - pathogenic (dominant) g.48273524C>T g.50196163C>T - - COL1A1_000046 Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic - - rs72645357 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.994G>A r.(?) p.(Gly332Arg) missense - Unknown - pathogenic (dominant) g.48273524C>T - - - COL1A1_000046 - PubMed: Kalayci 2023 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - OI2 Pat3 PubMed: Kalayci 2023 - ? ? Turkey - 00y00m - - - 1 Kim Worring
+/. - c.994G>A r.(?) p.(Gly332Arg) - - Unknown - pathogenic g.48273524C>T - COL1A1(NM_000088.3):c.994G>A (p.G332R) - COL1A1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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