Screening #0000064289

Individual ID 00064156
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 2
Owner name Johan den Dunnen


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
TTN titin 2 q31 2 9345 5349 2019-10-11 CMD-1G, CMH-9, HMERF, LGMD-2J, TMD, myopathy, early-onset, with fatal cardiomyopathy



Variants found

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

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     
2 Unknown ?/. g.179408096C>A g.178543369C>A NM_003319:c.G69409T - TTN_000917 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - 0 - Johan den Dunnen TTN - - - - - 348 NM_001267550.1:c.96604G>T - - r.(?) p.(Val32202Leu) - - - - - - - - - - - - - - - - - - -
3 Unknown ?/. g.46900986G>A g.46859496G>A NM_000258:c.C460T - MYL3_000020 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - 0 - Johan den Dunnen MYL3 - - - - - - NM_000258.2:c.460C>T - - r.(?) p.(Arg154Cys) - - - - - - - - - - - - - - - - - - -
Legend