Individual #00078802

ID_report -
Reference PubMed: Witting 2012
Remarks 2-generation family, affected sister
Gender F
Consanguinity -
Country Denmark
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases hCK
Owner name Johan den Dunnen


Phenotypes

hyperCKemia (hCK, elevated serum creatine phosphokinase) (hCK)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000058561 no muscle/bone abnormalities; raised CPK (HP:0003236) 555-2990; >14y walking (-HP:0006957) - - Isolated (sporadic) - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000078990 DNA SEQ - - ANO5 2 Johan den Dunnen



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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     
11 Parent #2 +/. g.22239825C>T g.22218279C>T - - ANO5_000039 - PubMed: Witting 2012 - - Germline - - - 0 - Johan den Dunnen ANO5 - - - - - 4i NM_213599.2:c.172C>T - - r.(?) p.(Arg58Trp) - - - - - - - - - - - - - - - - - - -
11 Parent #1 +/. g.22291977A>G g.22270431A>G - - ANO5_000029 - PubMed: Witting 2012 - - Germline - - - 0 - Johan den Dunnen ANO5 - - - - - 18 NM_213599.2:c.2018A>G - - r.(?) p.(Tyr673Cys) - - - - - - - - - - - - - - - - - - -
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