Individual #00016148

ID_report -
Reference -
Remarks -
Gender ?
Consanguinity ?
Country Netherlands
Population Caucasian
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases CMH
Owner name Terry Vrijenhoek


Phenotypes

cardiomyopathy, hypertrophic (CMH) (CMH)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000014933 originally diagnosed with hypertrophic cardiomyopathy - - Unknown - - - - - Terry Vrijenhoek



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016270 DNA SEQ;SEQ-NG leukocyte - GLA, MYBPC3, MYL3, TTN 5 Terry Vrijenhoek



Variants

5 entries on 1 page. Showing entries 1 - 5.
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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     
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) - - - - - - - - - - - - - - - - - - -
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