Full data view for gene CAV3

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Information The variants shown are described using the NM_033337.2 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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     
?/. 2 c.216C>G r.(?) p.(Cys72Trp) Unknown - VUS g.8787313C>G g.8745627C>G NM_001234:c.C216G - CAV3_000004 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. 2 c.216C>G r.(?) p.(Cys72Trp) Unknown - VUS g.8787313C>G g.8745627C>G NM_001234:c.C216G - CAV3_000004 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 2 c.216C>G r.216c>g p.Cys72Trp Parent #1 - pathogenic g.8787313C>G g.8745627C>G - - CAV3_000004 - PubMed: McNally, OMIM:var0004 - - Germline - - KpnI+ - - RNA, DNA RT-PCR, SSCA, SEQ - - LGMD - PubMed: McNally, OMIM:var0004 unaffected mother and 2 siblings carrying same change F - - - - - - - 4 Johan den Dunnen
-/. 2 c.216C>G r.(?) p.(Cys72Trp) Parent #1 - benign g.8787313C>G g.8745627C>G - - CAV3_000004 - PubMed: de Paula, OMIM:var0004 - - Germline - 1/100 KpnI+ - - DNA SSCA - - Healthy/Control - PubMed: de Paula, OMIM:var0004 - - - Brazil - - - - - 1 Johan den Dunnen
?/. 2 c.216C>G r.(?) p.(Cys72Trp) Parent #1 - VUS g.8787313C>G g.8745627C>G - - CAV3_000004 - - - - Germline - - KpnI+ - - DNA SEQ - - LGMD - - - - - Netherlands - - - - - 1 Ieke Ginjaar
-/. 2 c.216C>G r.(?) p.(Cys72Trp) Parent #1 - benign g.8787313C>G g.8745627C>G - - CAV3_000004 - PubMed: Vatta 2006 - - Germline - - - - - DNA DHPLC - - Healthy/Control - PubMed: Vatta 2006 - - - United States African - - - - 8 Johan den Dunnen
?/. 2 c.216C>G r.(?) p.(Cys72Trp) Parent #1 - VUS g.8787313C>G g.8745627C>G - - CAV3_000004 - PubMed: Arnestad 2007 - - Germline - - - - - DNA DHPLC - - ? - PubMed: Arnestad 2007 - - - Norway - - - - - 1 Johan den Dunnen
-/. 2 c.216C>G r.(?) p.(Cys72Trp) Parent #1 - benign g.8787313C>G g.8745627C>G - - CAV3_000004 - PubMed: Vatta 2006 - - Germline - - - - - DNA DHPLC - - Healthy/Control - PubMed: Vatta 2006 - - - United States white - - - - 3 Johan den Dunnen
+/. 2 c.216C>G r.(?) p.(Cys72Trp) Parent #1 - pathogenic g.8787313C>G g.8745627C>G - - CAV3_000004 control chromosomes PubMed: McNally, OMIM:var0004 - - Germline - 0/250 KpnI+ - - DNA SSCA - - Healthy/Control - PubMed: McNally, OMIM:var0004 - ? - - - - - - - 1 Johan den Dunnen
+?/. 2 c.216C>G r.(?) p.Cys72Trp Unknown - NA g.8787313C>G g.8745627C>G C71W - CAV3_000004 expression cloning C2C12 cells, CAV3-GFP normal MG53 localisation, no effect membrane repair PubMed: Cai 20029 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.216C>G r.(?) p.(Cys72Trp) Parent #1 - pathogenic g.8787313C>G g.8745627C>G - - CAV3_000004 - PubMed: Cecconi 2016, Journal: Cecconi 2016 - - Germline - reads 0.31 - - - DNA SEQ-NG-I - - CMH Pat787 PubMed: Cecconi 2016, Journal: Cecconi 2016 - M - Italy - - - - - 1 Domenico Coviello
-?/. - c.216C>G r.(?) p.(Cys72Trp) Unknown - likely benign g.8787313C>G g.8745627C>G CAV3(NM_033337.2):c.216C>G (p.C72W), CAV3(NM_033337.3):c.216C>G (p.C72W) - CAV3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.216C>G r.(?) p.(Cys72Trp) Unknown - likely benign g.8787313C>G g.8745627C>G CAV3(NM_033337.2):c.216C>G (p.C72W), CAV3(NM_033337.3):c.216C>G (p.C72W) - CAV3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.216C>G r.(?) p.(Cys72Trp) Unknown - likely benign g.8787313C>G g.8745627C>G CAV3(NM_033337.2):c.216C>G (p.C72W), CAV3(NM_033337.3):c.216C>G (p.C72W) - CAV3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.216C>G r.(?) p.(Cys72Trp) Unknown - likely benign g.8787313C>G g.8745627C>G CAV3(NM_033337.2):c.216C>G (p.C72W), CAV3(NM_033337.3):c.216C>G (p.C72W) - CAV3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.216C>G r.(?) p.(Cys72Trp) Unknown - VUS g.8787313C>G g.8745627C>G - - CAV3_000004 - PubMed: Sevy 2016, PubMed: Cerino 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - 298 gene panel neuromuscular disease MPD Pat9 PubMed: Sevy 2016, PubMed: Cerino 2020 - M - France - - - - - 1 Mathieu Cerino
-?/. - c.216C>G r.(?) p.(Cys72Trp) Parent #1 - likely benign g.8787313C>G g.8745627C>G - - CAV3_000004 9 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs116840776 Germline - 9/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 9 Mohammed Faruq
Legend   How to query  


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