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.

34 entries on 1 page. Showing entries 1 - 34.
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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     
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Parent #1 - pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 de novo, in patient PubMed: Carbone, OMIM:var0007 - - De novo - - BsaI- - - DNA SEQ - - hCK - PubMed: Carbone, OMIM:var0007 - M - Italy - - - - - 1 Johan den Dunnen
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Paternal (confirmed) - pathogenic g.8775642G>A g.8733956G>A 77G>A (R26Q) - CAV3_000007 not in 400 control chromosomes PubMed: Betz 2001, OMIM:var0007 - - Germline - - BsaI- - - DNA SEQ - - RMD2 - PubMed: Vorgerd 1999 father of 11431690-FamBIII1 M - Germany - >48y - - - 1 Johan den Dunnen
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Parent #1 - pathogenic g.8775642G>A g.8733956G>A 77G>A (R26Q) - CAV3_000007 not in 200 control chromosomes; de novo, in patient PubMed: Vorgerd 2001, OMIM:var0007 - - De novo - - - - - DNA SEQ - - RMD2 - PubMed: Vorgerd 2001 - M - Germany - >24y - - - 1 Johan den Dunnen
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Parent #1 - pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 - PubMed: Tateyama, OMIM:var0007 - - Germline - - BsaI- - - DNA SEQ - - ? - PubMed: Tateyama, OMIM:var0007 - F - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Parent #1 - pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 - PubMed: Figarella-Branger, OMIM:var0007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Figarella-Branger, OMIM:var0007 - F - - - >71y - - - 1 Johan den Dunnen
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Parent #1 - pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 - PubMed: Yabe - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Yabe 8 affecteds 4 generation family - - Japan - - - - - 4 Johan den Dunnen
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Parent #1 - pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 de novo, in patient PubMed: Carbone, OMIM:var0007 - - De novo - - BsaI- - - DNA SEQ - - hCK - PubMed: Carbone, OMIM:var0007 - F - Italy - - - - - 1 Johan den Dunnen
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Parent #1 - pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 - PubMed: Yabe - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Yabe 3 affecteds 3 generation family - - Japan - - - - - 3 Johan den Dunnen
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Parent #1 - pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 - PubMed: Fee, PubMed: So - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Fee, PubMed: So 16 affecteds large family - - United States - - - - - 16 Johan den Dunnen
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Parent #1 - pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 - PubMed: Fulizio, OMIM:var0007 - - Germline - - - - - DNA SEQ - - hCK - PubMed: Fulizio, OMIM:var0007 mother carrier M - Italy - - - - - 2 Johan den Dunnen
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Parent #1 - pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 - PubMed: Aboumousa 2008 - - Germline - - BsaI- - - DNA SEQ - - LGMD - - relative of 18583131.H3 F - United Kingdom (Great Britain) - >22y - - - 1 Ottie O'Brien
+/. 1 c.80G>A r.80g>a p.Arg27Gln Parent #1 - pathogenic g.8775642G>A g.8733956G>A 77G>A - CAV3_000007 - PubMed: Roberts 2006, PubMed: Lo 2008 - - Germline - - BsaI- - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: Roberts 2006, PubMed: Lo 2008 - F - Australia white - - - - 1 Maria Chiotis
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Maternal (confirmed) - pathogenic g.8775642G>A g.8733956G>A Arg26Gln - CAV3_000007 - PubMed: Schara 2002 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Schara 2002 2-generation family, affected mother and son; son M - Germany - - - - - 1 Johan den Dunnen
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Parent #1 - pathogenic g.8775642G>A g.8733956G>A Arg26Gln - CAV3_000007 - PubMed: Schara 2002 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Schara 2002 2-generation family, affected mother and son; mother F - Germany - >37y - - - 1 Johan den Dunnen
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Parent #1 - pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 control chromosomes PubMed: Carbone, OMIM:var0007 - - Germline - 0/204 - - - DNA SEQ - - Healthy/Control - PubMed: Carbone, OMIM:var0007 - - - Italy - - - - - 1 Johan den Dunnen
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Paternal (confirmed) - pathogenic g.8775642G>A g.8733956G>A 77G>A (R26Q) - CAV3_000007 not in 400 control chromosomes PubMed: Betz 2001, OMIM:var0007 - - Germline - - BsaI- - - DNA SEQ - - RMD2 - PubMed: Vorgerd 1999 sister of 11431690-FamBIII1 F - Germany - >17y - - - 1 Johan den Dunnen
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Paternal (confirmed) - pathogenic g.8775642G>A g.8733956G>A 77G>A (R26Q) - CAV3_000007 not in 400 control chromosomes PubMed: Betz 2001, OMIM:var0007 - - Germline - - BsaI- - - DNA SEQ - - RMD2 - PubMed: Vorgerd 1999 3-generation family, 5 affecteds M - Germany - >20y - - - 2 Johan den Dunnen
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Parent #1 - pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 - PubMed: Aboumousa 2008 - - Germline - - BsaI- - - DNA SEQ - - LGMD - PubMed: Aboumousa 2008 relative of 18583131.H2 F - United Kingdom (Great Britain) - >28y - - - 1 Ottie O'Brien
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Paternal (confirmed) - pathogenic g.8775642G>A g.8733956G>A 77G>A (R26Q) - CAV3_000007 not in 400 control chromosomes PubMed: Betz 2001, OMIM:var0007 - - Germline - - BsaI- - - DNA SEQ - - RMD2 - PubMed: Vorgerd 1999 aunt of 11431690-FamBIII1 F - Germany - >46y - - - 1 Johan den Dunnen
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Unknown - pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 - - - - Germline - - - - - DNA PCR, SEQ - - LGMD - - - M - Canada Asian - - - - 1 Tom Winder
+/. 1 c.80G>A r.(?) p.Arg27Gln Unknown - NA g.8775642G>A g.8733956G>A R26Q - CAV3_000007 expression cloning C2C12 cells, CAV3-GFP retention in Golgi influencing MG53/DYSF localisation, defective membrane repair PubMed: Cai 20029 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Parent #1 - pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel Healthy/Control, LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Parent #1 - pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Parent #1 - pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Parent #1 - pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. - c.80G>A r.(?) p.(Arg27Gln) Paternal (confirmed) - pathogenic (dominant) g.8775642G>A g.8733956G>A - - CAV3_000007 - PubMed: Hiraide 2019 - - Germline - - - - - DNA SEQ - - BMD, RMD2 FamPatIII3 PubMed: Hiraide 2019 3-generation family, 3 affecteds mixed phenotype, carrier BMD mother M - Japan - - - - - 4 Johan den Dunnen
+/. - c.80G>A r.(?) p.(Arg27Gln) Parent #1 - pathogenic (dominant) g.8775642G>A g.8733956G>A - - CAV3_000007 - PubMed: Hiraide 2019 - - Germline - - - - - DNA SEQ - - RMD2 FamPatI2/II1 PubMed: Marston 2015 PatI2 (grandmother) and PatII1 (father) F;M - Jamaica - - - - - 2 Johan den Dunnen
+/. - c.80G>A r.(?) p.(Arg27Gln) Paternal (confirmed) - pathogenic (dominant) g.8775642G>A g.8733956G>A - - CAV3_000007 - PubMed: Hiraide 2019 - - Germline yes - - - - DNA SEQ - - RMD2 FamPatIII1 PubMed: Hiraide 2019 sister, carrier BMD F - Japan - - - - - 1 Johan den Dunnen
+/. - c.80G>A r.(?) p.(Arg27Gln) Unknown - pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Parent #1 - pathogenic (dominant) g.8775642G>A g.8733956G>A - - CAV3_000007 - PubMed: Magri 2015 - - Germline - - - - - DNA SEQ - - LGMD Fam5Pat1 PubMed: Magri 2015 - F - Italy - - - - - 1 Johan den Dunnen
+?/. - c.80G>A r.(?) p.(Arg27Gln) Unknown - likely pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 1 Johan den Dunnen
+/. - c.80G>A r.(?) p.(Arg27Gln) Unknown - pathogenic g.8775642G>A - - - CAV3_000007 - - - rs116840778 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Unknown - pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 - PubMed: Karthikeyan 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - screened DMD, CAV3, COL6A1, COL6A2, COL6A3, CAPN3, DYSF, FLNC, LAMA2, SGCA, SGCD, SGCG, PLEC, SYNE1 DMD MDCRC/0119/B-131 PubMed: Karthikeyan 2024 - M no India - - - yes - 1 Lakshmi Bremadesam
+/. - c.80G>A r.(?) p.(Arg27Gln) Unknown - pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 - PubMed: Marti 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES hCK Pat29 PubMed: Marti 2025 patient, no family history - - Spain - - - - - 1 Johan den Dunnen
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