Screening #0000214701

Individual ID 00213632
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 2
Owner name Tom Winder


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
CAPN3 calpain 3, (p94) 15 q15.1 1 2970 696 2020-08-06 LGMD-2, LGMD-2A, LGMDD-4;LGMD-1I



Variants found

2 entries on 1 page. Showing entries 1 - 2.
Legend  

Chr     

Allele     

Effect     

Classification method     

Clinical classification     

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     

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     

Legacy protein change     

Protein level     
15 Unknown ?/. - VUS g.42676734C>G g.42384536C>G - - CAPN3_000401 - - - - Germline - - - 0 - Tom Winder CAPN3 - - - - - 2 NM_000070.2:c.363C>G - r.(?) p.(Ile121Met) - - - - - - - - - - - - - - - - - - - -
15 Unknown +/. - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - - - - Germline - - - 0 - Tom Winder CAPN3 - - - - - 22 NM_000070.2:c.2362_2363delinsTCATCT - r.(?) p.(Arg788Serfs*14) - - - - - - - - - - - - - - - - - - - -
Legend