Screening #0000058426

Individual ID 00058463
Template DNA
Technique SEQ-NG-I
Tissue -
Remarks -
Variants found? 4
Owner name Johan den Dunnen


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
DMD dystrophin X p21.2 1 17437 5526 2019-07-21 BMD, BMD/DMD, CMD-3B, DMD
RYR2 ryanodine receptor 2 (cardiac) 1 q43 1 1021 626 2019-02-24 ARVD-2;ARVC-2, CPVT-1
TTN titin 2 q31 2 9291 5333 2019-07-19 CMD-1G, CMH-9, HMERF, LGMD-2J, TMD, myopathy, early-onset, with fatal cardiomyopathy



Variants found

4 entries on 1 page. Showing entries 1 - 4.
Legend  

Chr     

Allele     

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     

Effect     

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     

Protein/Legacy     

CodonNr     

Method     

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/Stain     

Protein level     
1 Unknown g.237821276T>C g.237657976T>C - - RYR2_000002 - PubMed: van Spaendonck-Zwarts 2014 - - Germline - - - 0 - Johan den Dunnen RYR2 ?/. - - - - - - NM_001035.2:c.8162T>C - - r.(?) p.(Ile2721Thr) - - - - - - - - - - - - - - - - - - - - - - -
2 Paternal (inferred) g.179416527_179416530dup g.178551800_178551803dup NM_001256850.1:c.86171_86174dupAAAG - TTN_000601 - PubMed: van Spaendonck-Zwarts 2014 - - Germline yes - - 0 - Johan den Dunnen TTN +?/. - - - - - 336 NM_001267550.1:c.91097_91100dup - - r.(?) p.(Asn30367Lysfs*3) - - - - - - - - - - - - - - - - - - - - - - -
2 Unknown g.179443596C>T g.178578869C>T NM_001256850.1:c.63238G>A - TTN_000602 - PubMed: van Spaendonck-Zwarts 2014 - - Unknown ? - - 0 - Johan den Dunnen TTN -?/. - - - - - 321 NM_001267550.1:c.68161G>A - - r.(?) p.(Glu22721Lys) - - - - - - - - - - - - - - - - - - - - - - -
X Unknown g.31645869T>C g.31627752T>C - - DMD_003062 - PubMed: van Spaendonck-Zwarts 2014 - - Germline - - - 0 - Johan den Dunnen DMD ?/. - - - - - 55 NM_004006.2:c.8138A>G - - r.(?) p.(Asn2713Ser) - - - - - - - - - - - - - - - - - - - - - - -
Legend