Full data view for gene COL1A2


Osteogenesis Imperfecta Variant Database

Information The variants shown are described using the NM_000089.3 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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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     
+/+ 24 c.1378G>A r.(?) p.(Gly460Ser) - - Unknown ACMG pathogenic (dominant) g.94041407G>A g.94412095G>A - - COL1A2_000051 ACMG PS1 PS3 PM6 PubMed: Higuchi 2021, Journal: Higuchi 2021 - - Germline - - - - - DNA SEQ - - OI - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M - Japan Japanese - - - - 1 Yousuke Higuchi
+/+ 24 c.1378G>A r.(?) p.(Gly460Ser) missense Gly370Ser Unknown - pathogenic g.94041407G>A - - - COL1A2_000051 - PubMed: Marini et al., 2007 (Marini and Cabral, personal communication) - rs72658118 Unknown - - - - - ? ? - - OI, OI3 - PubMed: Marini et al., 2007 (Marini and Cabral, personal communication) - - - - - - - - - 1 Raymond Dalgleish
+/+ 24 c.1378G>A r.(?) p.(Gly460Ser) missense Gly370Ser Unknown - pathogenic g.94041407G>A - - - COL1A2_000051 - PubMed: Marini et al., 2007 (Marini, personal communication) - rs72658118 Unknown - - - - - ? ? - - OI, OI3 - PubMed: Marini et al., 2007 (Marini, personal communication) - - - - - - - - - 1 Raymond Dalgleish
+/+ 24 c.1378G>A r.(?) p.(Gly460Ser) missense Gly370Ser Unknown - pathogenic g.94041407G>A - - - COL1A2_000051 - PubMed: Marini et al., 2007 (De Paepe, personal communication) - rs72658118 Unknown - - - - - ? ? - - OI, OI3 - PubMed: Marini et al., 2007 (De Paepe, personal communication) - - - - - - - - - 1 Raymond Dalgleish
+/+ 24 c.1378G>A r.(?) p.(Gly460Ser) missense Gly370Ser Unknown - pathogenic g.94041407G>A - - - COL1A2_000051 - PubMed: Marini et al., 2007 (Byers, personal communication) - rs72658118 Unknown - - - - - ? ? - - OI, OI3 - PubMed: Marini et al., 2007 (Byers, personal communication) - - - - - - - - - 1 Peter Byers
+/+ 24 c.1378G>A r.(?) p.(Gly460Ser) missense Gly370Ser Unknown - pathogenic g.94041407G>A - - - COL1A2_000051 - PubMed: Marini et al., 2007 (Hyland and Prockop, personal communication) - rs72658118 Unknown - - - - - ? ? - - OI, OI2, OI3 - PubMed: Marini et al., 2007 (Hyland and Prockop, personal communication) - - - - - - - - - 1 Raymond Dalgleish
+/+ 24 c.1378G>A r.(?) p.(Gly460Ser) missense Gly370Ser Unknown - pathogenic g.94041407G>A - - - COL1A2_000051 - PubMed: Marini et al., 2007 (Körkkö and Prockop, personal communication) - rs72658118 Unknown - - - - - ? ? - - OI, OI3 - PubMed: Marini et al., 2007 (Körkkö and Prockop, personal communication) - - - - - - - - - 1 Raymond Dalgleish
+/+ 24 c.1378G>A r.(?) p.(Gly460Ser) missense Gly370Ser Unknown - pathogenic g.94041407G>A - - - COL1A2_000051 - PubMed: Marini et al., 2007 (Körkkö and Prockop, personal communication) - rs72658118 Unknown - - - - - ? ? - - OI, OI2, OI3 - PubMed: Marini et al., 2007 (Körkkö and Prockop, personal communication) - - - - - - - - - 1 Raymond Dalgleish
+/+ 24 c.1378G>A r.(?) p.(Gly460Ser) missense Gly370Ser Unknown - pathogenic g.94041407G>A - - - COL1A2_000051 - PubMed: Zhuang et al., 1996 - rs72658118 Unknown - - - - - RNA RT-PCR, SEQ - - OI, OI3 - PubMed: Zhuang et al., 1996 - - - - - - - - - 1 Raymond Dalgleish
+/+ 24 c.1378G>A r.(?) p.(Gly460Ser) missense Gly370Ser Unknown - pathogenic g.94041407G>A - - - COL1A2_000051 - PubMed: Hartikka et al., 2004 - rs72658118 Unknown - - - - - DNA CSGE, SEQ - - OI, OI4 - PubMed: Hartikka et al., 2004 - - - - - - - - - 1 Raymond Dalgleish
+/+ 24 c.1378G>A r.(?) p.(Gly460Ser) missense Gly370Ser Unknown - pathogenic g.94041407G>A - - - COL1A2_000051 - Lund, personal communication - rs72658118 Unknown - - - - - RNA PAGE, PCR, RT-PCR, SEQ - - OI, OI3, OI4 - Lund, personal communication - - - - Vietnamese - - - - 1 Allan Lund
+/+ 24 c.1378G>A r.(?) p.(Gly460Ser) missense Gly370Ser Unknown - pathogenic g.94041407G>A - - - COL1A2_000051 - - - rs72658118 Unknown - - - - - DNA SEQ - - OI, OI3 - {dbSNP72658118} - - - - - - - - - 1 Peter Roughley
+/+ 24 c.1378G>A r.(?) p.(Gly460Ser) missense Gly370Ser Unknown - pathogenic g.94041407G>A - - - COL1A2_000051 - - - rs72658118 Unknown - - - - - DNA DHPLC, SEQ - - OI, OI3 - - - - - - - - - - - 1 Margherita Maioli
+/+ 24 c.1378G>A r.(?) p.(Gly460Ser) missense Gly370Ser Unknown - pathogenic g.94041407G>A - - - COL1A2_000051 - - - rs72658118 Unknown - - - - - DNA PCR, SEQ - - OI, OI2, OI3 - - - - - - - - - - - 1 Sofie Symoens
+/+ 24 c.1378G>A r.(?) p.(Gly460Ser) missense Gly370Ser Unknown - pathogenic g.94041407G>A - - - COL1A2_000051 - - - rs72658118 Unknown - - - - - DNA PCR, SEQ - - OI, OI3 - - - - - - - - - - - 1 Sofie Symoens
+/+ 24 c.1378G>A r.(?) p.(Gly460Ser) missense Gly370Ser Unknown - pathogenic g.94041407G>A - - - COL1A2_000051 - PubMed: Lin et al., 2015 - rs72658118 Unknown - - - - - DNA PCR, SEQ - - OI, OI4 - PubMed: Lin et al., 2015 - - - - Taiwanese - - - - 1 Raymond Dalgleish
+/+ 24 c.1378G>A r.(?) p.(Gly460Ser) missense Gly370Ser Unknown - pathogenic g.94041407G>A - - - COL1A2_000051 - PubMed: Ho Duy et al., 2016 - rs72658118 Unknown - - - - - DNA PCR, SEQ - - OI, OI4 - PubMed: Ho Duy et al., 2016 - - - - Vietnamese - - - - 1 Raymond Dalgleish
+/+ 24 c.1378G>A r.(?) p.(Gly460Ser) missense Gly370Ser Unknown - pathogenic g.94041407G>A - - - COL1A2_000051 - - - rs72658118 Unknown - - - - - DNA SEQ - - OI, OI2, OI3 - - - - - - - - - - - 1 Ken Poole
+/. 24 c.1378G>A r.(?) p.(Gly460Ser) - - Parent #1 - pathogenic (dominant) g.94041407G>A g.94412095G>A NM_000089.3:c.1378G>A:p.(Gly460Ser) - COL1A2_000051 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 11DG0066 PubMed: Maddirevula 2018 isolated case M no - Arab - - - - 1 LOVD
+/. 24 c.1378G>A r.(?) p.(Gly460Ser) - - Unknown - pathogenic (dominant) g.94041407G>A g.94412095G>A NM_000089.3:c.1378G>A:p.(Gly460Ser) - COL1A2_000051 - PubMed: Maddirevula 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 14DG0759 PubMed: Maddirevula 2018 isolated case F - - Arab - - - - 1 LOVD
+/. 24 c.1378G>A r.(?) p.(Gly460Ser) missense - Unknown - pathogenic g.94041407G>A - - - COL1A2_000051 - - - - Unknown - - - - - DNA SEQ-NG-I - - OI - - - - - Brazil - - - - - 1 Karina Silveira
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