Screening #0000016270

Individual ID 00016148
Template DNA
Technique SEQ;SEQ-NG
Tissue leukocyte
Remarks -
Variants found? 5
Owner name Terry Vrijenhoek


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
GLA galactosidase, alpha X q21.3-q22 1 818 725 2019-03-03 Fabry
MYBPC3 myosin binding protein C, cardiac 11 p11.2 1 1587 831 2019-06-21 CMH-4, LVNC-10;CMD-1MM
MYL3 myosin, light chain 3, alkali; ventricular, skeletal, slow 3 p 1 107 59 2018-12-27 CMH-8
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

5 entries on 1 page. Showing entries 1 - 5.
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.179632515G>A g.178767788G>A NM_003319.3:c.9304C>T (Arg3102Cys) - TTN_000628 - PubMed: Vrijenhoek 2015, Journal: Vrijenhoek 2015 - - Unknown ? - - 0 - Terry Vrijenhoek TTN - - - - - 40 NM_001267550.1:c.9442C>T - - r.(?) p.(Arg3148Cys) - - - - - - - - - - - - - - - - - - -
2 Parent #1 ?/? g.179665423A>G g.178800696A>G - - TTN_000632 - PubMed: Vrijenhoek 2015, Journal: Vrijenhoek 2015 - - Unknown ? - - 0 - Terry Vrijenhoek TTN - - - - - 3i NM_001267550.1:c.296-14T>C - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
3 Parent #1 ?/? g.46900970G>A g.46859480G>A - - MYL3_000021 - Vrijenhoek, submitted - - Unknown ? - - 0 - Terry Vrijenhoek MYL3 - - - - - ? NM_000258.2:c.476C>T - - r.(?) p.(Thr159Met) - - - - - - - - - - - - - - - - - - -
11 Parent #1 +/? g.47357427C>T g.47335876C>T - - MYBPC3_000501 - Vrijenhoek, submitted - - Unknown ? - - 0 - Terry Vrijenhoek MYBPC3 - - - - - 26i NM_000256.3:c.2737+1G>A - - r.spl p.? - - - - - - - - - - - - - - - - - - -
X Parent #1 +/. g.100656740C>T g.101401752C>T - - GLA_000014 - Vrijenhoek, submitted - - Germline - - - 0 - Terry Vrijenhoek GLA - - - - - 3 NM_000169.2:c.427G>A - - r.(?) p.(Ala143Thr) - - - - - - - - - - - - - - - - - - -
Legend