Individual #00016140

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     
0000014925 originally diagnosed with hypertrophic cardiomyopathy - - Unknown - - - - - Terry Vrijenhoek



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016262 DNA SEQ;SEQ-NG leukocyte - DMD, JPH2, TNNI3, TTN 6 Terry Vrijenhoek



Variants

6 entries on 1 page. Showing entries 1 - 6.
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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.179416372C>T g.178551645C>T NM_003319.4:c.64060G>A (Ala21354Thr) - TTN_000624 - PubMed: Vrijenhoek 2015, Journal: Vrijenhoek 2015 - - Unknown ? - - 0 - Terry Vrijenhoek TTN - - - - - 336 NM_001267550.1:c.91255G>A - - r.(?) p.(Ala30419Thr) - - - - - - - - - - - - - - - - - - -
2 Unknown ?/? g.179481618C>G g.178616891C>G NM_003319.4:c.20803G>C (Asp6935His) - TTN_000626 - PubMed: Vrijenhoek 2015, Journal: Vrijenhoek 2015 - - Unknown ? - - 0 - Terry Vrijenhoek TTN - - - - - 257 NM_001267550.1:c.47998G>C - - r.(?) p.(Asp16000His) - - - - - - - - - - - - - - - - - - -
2 Unknown ?/? g.179638729A>C g.178774002A>C NM_003319.3:c.7028T>G (Met2343Arg) - TTN_000630 - PubMed: Vrijenhoek 2015, Journal: Vrijenhoek 2015 - - Unknown ? - - 0 - Terry Vrijenhoek TTN - - - - - 31 NM_001267550.1:c.7166T>G - - r.(?) p.(Met2389Arg) - - - - - - - - - - - - - - - - - - -
19 Parent #1 +/? g.55665450G>A g.55154082G>A - - TNNI3_000035 - Vrijenhoek, submitted - - Unknown ? - - 0 - Terry Vrijenhoek TNNI3 - - - - - ? NM_000363.4:c.497C>T - - r.(?) p.(Ser166Phe) - - - - - - - - - - - - - - - - - - -
20 Parent #1 ?/? g.42788779C>T g.44160139C>T - - JPH2_000001 - Vrijenhoek, submitted - - Unknown ? - - 0 - Terry Vrijenhoek JPH2 - - - - - ? NM_020433.4:c.648G>A - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
X Parent #1 ?/. g.32361267T>A g.32343150T>A - - DMD_000961 - Vrijenhoek, submitted - - Germline ? - - 0 - Terry Vrijenhoek DMD - - - - - 40 NM_004006.2:c.5723A>T - VUS r.(?) p.(Asp1908Val) - - - - - - - - - - - - - - - - - - -
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