Full data view for gene PLS3


Osteogenesis Imperfecta Variant Database
Information The variants shown are described using the NM_005032.5 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
Legend   How to query  

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     
+?/. - c.808G>A r.(?) p.(Glu270Lys) Maternal (inferred) - likely pathogenic (dominant) g.114871207G>A g.115636895G>A - - PLS3_000059 - PubMed: Petit 2023, Journal: Petit 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - DIH Fam1PatIII1 PubMed: Petit 2023, Journal: Petit 2023 relative F - France - - - - - 1 Johan den Dunnen
+?/. - c.808G>A r.(?) p.(Glu270Lys) Maternal (inferred) - likely pathogenic (dominant) g.114871207G>A g.115636895G>A - - PLS3_000059 - PubMed: Petit 2023, Journal: Petit 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - DIH Fam1PatIII2 PubMed: Petit 2023, Journal: Petit 2023 relative M - France - - - - - 1 Johan den Dunnen
+?/. - c.808G>A r.(?) p.(Glu270Lys) Maternal (inferred) - likely pathogenic (dominant) g.114871207G>A g.115636895G>A - - PLS3_000059 - PubMed: Petit 2023, Journal: Petit 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - DIH Fam1PatIII4 PubMed: Petit 2023, Journal: Petit 2023 relative F - France - - - - - 1 Johan den Dunnen
+?/. - c.808G>A r.(?) p.(Glu270Lys) Maternal (inferred) - likely pathogenic (dominant) g.114871207G>A g.115636895G>A - - PLS3_000059 - PubMed: Petit 2023, Journal: Petit 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - DIH Fam1PatIII10 PubMed: Petit 2023, Journal: Petit 2023 relative F - France - - - - - 1 Johan den Dunnen
+?/. - c.808G>A r.(?) p.(Glu270Lys) Maternal (confirmed) - likely pathogenic (dominant) g.114871207G>A g.115636895G>A - - PLS3_000059 - PubMed: Petit 2023, Journal: Petit 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - DIH Fam1PatIV3 PubMed: Petit 2023, Journal: Petit 2023 relative F - France - - - - - 1 Johan den Dunnen
+?/. - c.808G>A r.(?) p.(Glu270Lys) Maternal (confirmed) - likely pathogenic (dominant) g.114871207G>A g.115636895G>A - - PLS3_000059 - PubMed: Petit 2023, Journal: Petit 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - DIH Fam1PatIV4 PubMed: Petit 2023, Journal: Petit 2023 relative F - France - - - - - 1 Johan den Dunnen
+?/. - c.808G>A r.(?) p.(Glu270Lys) Maternal (confirmed) - likely pathogenic (dominant) g.114871207G>A g.115636895G>A - - PLS3_000059 - PubMed: Petit 2023, Journal: Petit 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - DIH Fam1PatIV12 PubMed: Petit 2023, Journal: Petit 2023 relative F - France - - - - - 1 Johan den Dunnen
+?/. - c.808G>A r.(?) p.(Glu270Lys) Maternal (confirmed) - likely pathogenic (dominant) g.114871207G>A g.115636895G>A - - PLS3_000059 - PubMed: Petit 2023, Journal: Petit 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - DIH Fam1PatIV15 PubMed: Petit 2023, Journal: Petit 2023 relative F - France - - - - - 1 Johan den Dunnen
+?/. - c.808G>A r.(?) p.(Glu270Lys) Maternal (confirmed) - likely pathogenic (dominant) g.114871207G>A g.115636895G>A - - PLS3_000059 - PubMed: Petit 2023, Journal: Petit 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - DIH Fam1PatIV16 PubMed: Petit 2023, Journal: Petit 2023 relative M - France - - - - - 1 Johan den Dunnen
+?/. - c.808G>A r.(?) p.(Glu270Lys) Maternal (confirmed) - likely pathogenic (dominant) g.114871207G>A g.115636895G>A - - PLS3_000059 - PubMed: Petit 2023, Journal: Petit 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - DIH Fam1PatIV34 PubMed: Petit 2023, Journal: Petit 2023 relative F - France - - - - - 1 Johan den Dunnen
+?/. - c.808G>A r.(?) p.(Glu270Lys) Maternal (confirmed) - likely pathogenic (dominant) g.114871207G>A g.115636895G>A - - PLS3_000059 - PubMed: Petit 2023, Journal: Petit 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - DIH Fam1PatV2 PubMed: Petit 2023, Journal: Petit 2023 relative M - France - - - - - 1 Johan den Dunnen
+?/. - c.808G>A r.(?) p.(Glu270Lys) Maternal (confirmed) - likely pathogenic (dominant) g.114871207G>A g.115636895G>A - - PLS3_000059 - PubMed: Petit 2023, Journal: Petit 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - DIH Fam1PatV6 PubMed: Petit 2023, Journal: Petit 2023 relative (fetus) M - France - - - - - 1 Johan den Dunnen
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.