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.

13 entries on 1 page. Showing entries 1 - 13.
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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     
+/. 2 c.290_292del r.(?) p.(Phe97del) Parent #1 - pathogenic g.8787387_8787389del g.8745701_8745703del - - CAV3_000014 - PubMed: Cagliani, OMIM:var0011 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Cagliani, OMIM:var0011 8 affecteds large family ? - Italy - - - - - 8 Johan den Dunnen
+/. 2 c.290_292del r.(?) p.(Phe97del) Parent #1 - pathogenic g.8787387_8787389del g.8745701_8745703del - - CAV3_000014 - PubMed: Cagliani, PubMed: Guglieri 2007, OMIM:var0011 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Cagliani, PubMed: Guglieri 2008, OMIM:var0011 member family 14663034-I; autosomal dominant inheritance M - Italy - >55y - - - 1 Johan den Dunnen
+/. 2 c.290_292del r.(?) p.(Phe97del) Parent #1 - pathogenic g.8787387_8787389del g.8745701_8745703del - - CAV3_000014 - PubMed: Cagliani, PubMed: Guglieri 2007, OMIM:var0011 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Cagliani, PubMed: Guglieri 2008, OMIM:var0011 member family 14663034-I; autosomal dominant inheritance F - Italy - >25y - - - 1 Johan den Dunnen
+/. 2 c.290_292del r.(?) p.(Phe97del) Parent #1 - pathogenic g.8787387_8787389del g.8745701_8745703del - - CAV3_000014 - PubMed: Cagliani, PubMed: Guglieri 2007, OMIM:var0011 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Cagliani, PubMed: Guglieri 2008, OMIM:var0011 member family 14663034-I; autosomal dominant inheritance M - Italy - >17y - - - 1 Johan den Dunnen
+/. 2 c.290_292del r.(?) p.(Phe97del) Parent #1 - pathogenic g.8787387_8787389del g.8745701_8745703del - - CAV3_000014 - PubMed: Cagliani, PubMed: Guglieri 2007, OMIM:var0011 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Cagliani, PubMed: Guglieri 2008, OMIM:var0011 member family 14663034-I; autosomal dominant inheritance F - Italy - >49y - - - 1 Johan den Dunnen
+/. 2 c.290_292del r.(?) p.(Phe97del) Parent #1 - pathogenic g.8787387_8787389del g.8745701_8745703del - - CAV3_000014 - PubMed: Cagliani, PubMed: Guglieri 2007, OMIM:var0011 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Cagliani, PubMed: Guglieri 2008, OMIM:var0011 member family 14663034-I; autosomal dominant inheritance M - Italy - >24y - - - 1 Johan den Dunnen
+/. 2 c.290_292del r.(?) p.(Phe97del) Parent #1 - pathogenic g.8787387_8787389del g.8745701_8745703del - - CAV3_000014 - PubMed: Cagliani, PubMed: Guglieri 2007, OMIM:var0011 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Cagliani, PubMed: Guglieri 2008, OMIM:var0011 member family 14663034-I; autosomal dominant inheritance M - Italy - >41y - - - 1 Johan den Dunnen
+/. 2 c.290_292del r.(?) p.(Phe97del) Parent #1 - pathogenic g.8787387_8787389del g.8745701_8745703del - - CAV3_000014 - PubMed: Cagliani, PubMed: Guglieri 2007, OMIM:var0011 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Cagliani, PubMed: Guglieri 2008, OMIM:var0011 member family 14663034-I; autosomal dominant inheritance M - Italy - >7y - - - 1 Johan den Dunnen
+/. 2 c.290_292del r.(?) p.(Phe97del) Parent #1 - pathogenic g.8787387_8787389del g.8745701_8745703del - - CAV3_000014 - PubMed: Cagliani, PubMed: Guglieri 2007, OMIM:var0011 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Cagliani, PubMed: Guglieri 2008, OMIM:var0011 member family 14663034-I; autosomal dominant inheritance M - Italy - >46y - - - 1 Johan den Dunnen
+/. 2 c.290_292del r.(?) p.(Phe97del) Parent #1 - pathogenic g.8787387_8787389del g.8745701_8745703del - - CAV3_000014 1 variant identified in 50 LGMD patients screened ESHG2010, Spadafora P12.118 - - Germline - 1/50 - - - DNA SEQ - - LGMD - ESHG2010, Spadafora P12.118 - - - Italy - - - - - 1 Johan den Dunnen
+/. 2 c.290_292del r.(?) p.(Phe97del) Parent #1 - pathogenic g.8787387_8787389del g.8745701_8745703del 289_291delTTC - CAV3_000014 - - - - Germline - - - - - DNA SEQ - - ? private email contact me for details - - - Italy - - - - - 1 Johan den Dunnen
?/. 2 c.290_292del r.(?) p.(Phe97del) Parent #1 - VUS g.8787387_8787389del g.8745701_8745703del 290_292delTCT - CAV3_000014 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 2 c.290_292del r.(?) p.(Phe97del) Parent #1 - pathogenic (dominant) g.8787387_8787389del g.8745701_8745703del - - CAV3_000014 - PubMed: Magri 2015 - - Germline - - - - - DNA SEQ - - LGMD Fam3Pat1-1 PubMed: Magri 2015 family, 10 affected (3F, 7M) F;M - Italy - - - - - 10 Johan den Dunnen
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