Full data view for gene CAPN3

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000070.2 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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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     
+/. 12i c.1536+1G>T r.1536_1537ins[u;1536+2_1537-1] p.Met513Ilefs*2 Both (homozygous) - pathogenic g.42694334G>T g.42402136G>T - - CAPN3_000407 - ESHG2010 Hadj Salem P12.119, PubMed: HadjSamen 2011 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - LGMD 20477750-PatIV12 - 5-generation family, branches with CAPN3 and LAMA2 variants F yes Tunisia - >29y - - - 1 Nacim Louhichi
+/. 12i c.1536+1G>T r.1536_1537ins[u;1536+2_1537-1] p.Met513Ilefs*2 Both (homozygous) - pathogenic g.42694334G>T g.42402136G>T - - CAPN3_000407 - ESHG2010 Hadj Salem P12.119, PubMed: HadjSamen 2011 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD 20477750-PatIV13 - 5-generation family, branches with CAPN3 and LAMA2 variants M yes Tunisia - >31y - - - 1 Nacim Louhichi
+/. 12i c.1536+1G>T r.1536_1537ins[u;1536+2_1537-1] p.Met513Ilefs*2 Both (homozygous) - pathogenic g.42694334G>T g.42402136G>T - - CAPN3_000407 - ESHG2010 Hadj Salem P12.119, PubMed: HadjSamen 2011 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - LGMD 20477750-PatIV14 - 5-generation family, branches with CAPN3 and LAMA2 variants M yes Tunisia - >38y - - - 1 Nacim Louhichi
+/. 12i c.1536+1G>T r.1536_1537ins[u;1536+2_1537-1] p.Met513Ilefs*2 Both (homozygous) - pathogenic g.42694334G>T g.42402136G>T - - CAPN3_000407 - ESHG2010 Hadj Salem P12.119, PubMed: HadjSamen 2011 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - LGMD 20477750-PatIV15 - 5-generation family, branches with CAPN3 and LAMA2 variants M yes Tunisia - >27y - - - 1 Nacim Louhichi
+/. 12i c.1536+1G>T r.1536_1537ins[u;1536+2_1537-1] p.Met513Ilefs*2 Both (homozygous) - pathogenic g.42694334G>T g.42402136G>T - - CAPN3_000407 - ESHG2010 Hadj Salem P12.119, PubMed: HadjSamen 2011 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - LGMD 20477750-PatV5 - 5-generation family, branches with CAPN3 and LAMA2 variants F yes Tunisia - >20y - - - 1 Nacim Louhichi
+/. 12i c.1536+1G>T r.1536_1537ins[u;1536+2_1537-1] p.Met513Ilefs*2 Both (homozygous) - pathogenic g.42694334G>T g.42402136G>T - - CAPN3_000407 - ESHG2010 Hadj Salem P12.119, PubMed: HadjSamen 2011 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - LGMD 20477750-PatV6 ESHG2010 Hadj Salem P12.119, PubMed: HadjSamen 2011 5-generation family, branches with CAPN3 and LAMA2 variants M yes Tunisia - >15y - - - 1 Nacim Louhichi
+/. 12i c.1536+1G>T r.1536_1537ins[u;1536+2_1537-1] p.Met513Ilefs*2 Parent #1 - pathogenic g.42694334G>T g.42402136G>T - - CAPN3_000407 - ESHG2010 Hadj Salem P12.119, PubMed: HadjSamen 2011 - - Germline - - - - - DNA SEQ - - Healthy/Control 20477750-Fam ESHG2010 Hadj Salem P12.119, PubMed: HadjSamen 2011 5-generation family, branches with CAPN3 and LAMA2 variants - yes Tunisia - - - - - 6 Nacim Louhichi
+/. 12i c.1536+1G>T r.1536_1537ins[u;1536+2_1537-1] p.Met513Ilefs*2 Parent #1 - pathogenic g.42694334G>T g.42402136G>T - - CAPN3_000407 - ESHG2010 Hadj Salem P12.119, PubMed: HadjSamen 2011 - - Germline - - - - - DNA SEQ - - Healthy/Control 20477750-Fam ESHG2010 Hadj Salem P12.119, PubMed: HadjSamen 2011 5-generation family, branches with CAPN3 and LAMA2 variants - yes Tunisia - - - - - 2 Nacim Louhichi
+/. 12i c.1536+1G>T r.1536_1537ins[u;1536+2_1537-1] p.Met513Ilefs*2 Parent #1 - pathogenic g.42694334G>T g.42402136G>T - - CAPN3_000407 - ESHG2010 Hadj Salem P12.119, PubMed: HadjSamen 2011 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MDC 20477750-PatV3 ESHG2010 Hadj Salem P12.119, PubMed: HadjSamen 2011 5-generation family, branches with CAPN3 and LAMA2 variants M yes Tunisia - >05y - - - 1 Nacim Louhichi
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