Screening #0000102990

Individual ID 00102539
Template DNA;RNA
Technique RT-PCR;SEQ
Tissue -
Remarks -
Variants found? 1
Owner name Nacim Louhichi


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
CAPN3 calpain 3, (p94) 15 q15.1 1 2864 671 2019-12-10 LGMD-2, LGMD-2A, LGMDD-4;LGMD-1I
LAMA2 laminin, alpha 2 6 q22-q23 1 2006 624 2019-12-10 ID, LGMDR-23, MDC, MDC-1A



Variants found

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA 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     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
15 Both (homozygous) +/. g.42694334G>T g.42402136G>T - - CAPN3_000407 - ESHG2010 Hadj Salem P12.119, PubMed: HadjSamen 2011 - - Germline yes - - 0 - Johan den Dunnen CAPN3 - - - - - 12i NM_000070.2:c.1536+1G>T - - r.1536_1537insuins1536+2_1537-1 p.Met513Ilefs*2 - - - - - - - - - - - - - - - - - - -
Legend