Full data view for gene P3H1


Osteogenesis Imperfecta Variant Database
Information The variants shown are described using the NM_022356.3 transcript reference sequence.

41 entries on 1 page. Showing entries 1 - 41.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Cabral 2007 - - Germline - - BslI+ - - DNA PCR, SEQ - - OI Proband 1 PubMed: Cabral 2007 - - - Ghana - - - - - 1 Raymond Dalgleish
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Cabral 2007 - - Germline - - BslI+ - - DNA PCR, SEQ - - OI Proband 2 PubMed: Cabral 2007 The probands sibling (2-2, terminated at 19 weeks) is described as Proband 7 by PubMed: Chang et al., 2010. - - United States African-American - - - - 1 Raymond Dalgleish
+/+ 5i c.1080+1G>T r.spl p.? Maternal (confirmed) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Cabral 2007 - - Germline - - BslI+ - - DNA PCR, SEQ - - OI Proband 3 PubMed: Cabral 2007 - - - Nigeria - - - - - 1 Raymond Dalgleish
+/+ 5i c.1080+1G>T r.spl p.? Maternal (confirmed) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Cabral 2007 - - Germline - - BslI+ - - DNA PCR, SEQ - - OI Proband 4 PubMed: Cabral 2007 The patient has also been described as Proband 8 by PubMed: Chang et al., 2010. - - United States African-American;Virgin Islands (US) - - - - 1 Raymond Dalgleish
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Baldridge 2008 - - Germline - - BslI+ - - DNA PCR, SEQ - - OI Proband 11 PubMed: Baldridge 2008 This patient was subsequently presented as patient 5 by {PMID24498616:Pepin et al., 2013}. - - United States African-American - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Baldridge 2008 - - Germline - - BslI+ - - DNA PCR, SEQ - - OI Proband 12 PubMed: Baldridge 2008 This patient was subsequently presented as patient 6 by {PMID24498616:Pepin et al., 2013}. - - United States African-American - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Baldridge 2008 - - Germline - - BslI+ - - DNA PCR, SEQ - - OI Proband 13 PubMed: Baldridge 2008 - - - United States African-American - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Baldridge 2008 - - Germline - - BslI+ - - DNA PCR, SEQ - - OI Proband 14 PubMed: Baldridge 2008 This patient was subsequently presented as patient 13 by {PMID24498616:Pepin et al., 2013}. - - United States African-American - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Unknown - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Baldridge 2008 - - Germline - - BslI+ - - DNA PCR, SEQ - - OI Proband 15 PubMed: Baldridge 2008 This patient was subsequently presented as patient 33 by {PMID24498616:Pepin et al., 2013} though the Proband number is mis-identified as 5, rather than as 15. - - United States African-American - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Bodian 2009 - - Germline - - BslI+ - - DNA PCR, SEQ - - OI D1 PubMed: Bodian 2009 - - - United States African-American? - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Bodian 2009 - - Germline - - BslI+ - - DNA PCR, SEQ - - OI D3 PubMed: Bodian 2009 - - - United States African-American? - - - - 1 Peter Byers
+/? 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Pyott 2011 - - Germline - - BslI+ - - DNA PCR, SEQ - - OI Family 46 PubMed: Pyott 2011 - - - - - - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Unknown - pathogenic g.43223453C>A - - - P3H1_000001 The sequence variants are not presented by the authors in the paper, but were provided by the diagnostic laboratory. This patient was subsequently presented as patient 35 by {PMID24498616:Pepin et al., 2013}. PubMed: Moul 2013 - - Germline - - BslI+ - - DNA SEQ - - OI - PubMed: Moul 2013 - - - - African-Colombian;African-American - - - - 1 Raymond Dalgleish
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Pepin 2013 - - Germline - - BslI+ - - DNA, RNA PCR, RT-PCR, SEQ - - OI 4 PubMed: Pepin 2013 - - - United States African-American - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Pepin 2013 - - Germline - - BslI+ - - DNA, RNA PCR, RT-PCR, SEQ - - OI 7 PubMed: Pepin 2013 - - - United States African-American - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Pepin 2013 - - Germline - - BslI+ - - DNA, RNA PCR, RT-PCR, SEQ - - OI 8 PubMed: Pepin 2013 - - - United States African-American - - - - 1 Raymond Dalgleish
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Pepin 2013 - - Germline - - BslI+ - - DNA, RNA PCR, RT-PCR, SEQ - - OI 9 PubMed: Pepin 2013 - - - United States African-American - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Pepin 2013 - - Germline - - BslI+ - - DNA, RNA PCR, RT-PCR, SEQ - - OI 10 PubMed: Pepin 2013 - - - United States African-American - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Pepin 2013 - - Germline - - BslI+ - - DNA, RNA PCR, RT-PCR, SEQ - - OI 11 PubMed: Pepin 2013 - - - Haiti African - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Pepin 2013 - - Germline - - BslI+ - - DNA, RNA PCR, RT-PCR, SEQ - - OI 12 PubMed: Pepin 2013 - - - United States African-American - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Pepin 2013 - - Germline - - BslI+ - - DNA, RNA PCR, RT-PCR, SEQ - - OI 14 PubMed: Pepin 2013 - - - United States African-American - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Pepin 2013 - - Germline - - BslI+ - - DNA, RNA PCR, RT-PCR, SEQ - - OI 15 PubMed: Pepin 2013 - - - United States African-American - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Unknown - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Pepin 2013 - - Germline - - BslI+ - - DNA, RNA PCR, RT-PCR, SEQ - - OI 31 PubMed: Pepin 2013 - - - United States African-American - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Unknown - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Pepin 2013 - - Germline - - BslI+ - - DNA, RNA PCR, RT-PCR, SEQ - - OI 32 PubMed: Pepin 2013 - - - United States African-American - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Unknown - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Pepin 2013 - - Germline - - BslI+ - - DNA, RNA PCR, RT-PCR, SEQ - - OI 34 PubMed: Pepin 2013 - - - United States African-American - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Unknown - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Pepin 2013 - - Germline - - BslI+ - - DNA, RNA PCR, RT-PCR, SEQ - - OI 36 PubMed: Pepin 2013 - - - United States African-American - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Unknown - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Pepin 2013 - - Germline - - BslI+ - - DNA, RNA PCR, RT-PCR, SEQ - - OI 37 PubMed: Pepin 2013 - - - - - - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Unknown - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Pepin 2013 - - Germline - - BslI+ - - DNA, RNA PCR, RT-PCR, SEQ - - OI 38 PubMed: Pepin 2013 - - - United States African-American - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Unknown - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Pepin 2013 - - Germline - - BslI+ - - DNA, RNA PCR, RT-PCR, SEQ - - OI 39 PubMed: Pepin 2013 - - - - Asian Indian - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Unknown - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Pepin 2013 - - Germline - - BslI+ - - DNA, RNA PCR, RT-PCR, SEQ - - OI 40 PubMed: Pepin 2013 - - - United States African-American - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Unknown - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Pepin 2013 - - Germline - - BslI+ - - DNA, RNA PCR, RT-PCR, SEQ - - OI 41 PubMed: Pepin 2013 - - - United States African-American - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Rauch 2014 - - Germline - - BslI+ - - DNA PCRm, SEQ - - OI - PubMed: Rauch 2014 - - - - - - - - - 1 Raymond Dalgleish
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Barbirato 2015 - - Germline - - BslI+ - - DNA PCR, SEQ, SSCA - - OI P1 PubMed: Barbirato 2015 The proband is the son of cousin parents whose DNA was not available for testing. - - - - - - - - 1 Raymond Dalgleish
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Fratzl-Zelman 2016 - - Germline - - BslI+ - - DNA PCR, SEQ - - OI Proband 4 PubMed: Fratzl-Zelman 2016 - - - United States African-American - - - - 1 Raymond Dalgleish
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Fratzl-Zelman 2016 - - Germline - - BslI+ - - DNA PCR, SEQ - - OI Proband 5 PubMed: Fratzl-Zelman 2016 - - - Ghana - - - - - 1 Raymond Dalgleish
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Fratzl-Zelman 2016 - - Germline - - BslI+ - - DNA PCR, SEQ - - OI Proband 6 PubMed: Fratzl-Zelman 2016 The proband died at 3 weeks of age. - - Ghana - - - - - 1 Raymond Dalgleish
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - - - - Germline - - - - - DNA PCR, SEQ - - OI - - The probands OI diagnosed sister also harbours the same homozygous mutation. - - Palestine - - - - - 1 Sofie Symoens
+/+ 5i c.1080+1G>T r.spl p.? Unknown - pathogenic g.43223453C>A - - - P3H1_000001 - - - - Germline - - BslI+ - - DNA SEQ-NG - custom gene panel OI - - Diagnosed prenatally via U/S with OI. 5 fractures at age 21 months: bilateral femur fractures at least twice, bilateral ulnae, bilateral humerus, and a questionable skull fracture. Currently, at age 14, is ambulatory and plays sports. - - United States African-American - - - - 1 Myla Ashfaq
+/+ 5i c.1080+1G>T r.spl p.? Paternal (confirmed) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Santana 2018 - - Germline - - BslI+ - - DNA SEQ - - OI - PubMed: Santana 2018 The phenotype is described as being moderately severe. - - - - - - - - 1 Raymond Dalgleish
+/. - c.1080+1G>T r.spl? p.? Unknown - pathogenic g.43223453C>A - P3H1(NM_022356.3):c.1080+1G>T, P3H1(NM_022356.4):c.1080+1G>T - P3H1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1080+1G>T r.spl? p.? Unknown - pathogenic g.43223453C>A - P3H1(NM_022356.3):c.1080+1G>T, P3H1(NM_022356.4):c.1080+1G>T - P3H1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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