Individual #00078782

ID_report -
Reference PubMed: Milone 2011
Remarks -
Gender F
Consanguinity -
Country Ireland;Poland
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name Tom Winder


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Phenotype details     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000058541 - - Isolated (sporadic) - - anoctaminopathy, exercize intolerance, late-onset proximal leg weaknes, recurrent rhabdomyolysis; muscle biopsy amyloid deposits blood vessel walls/around muscle fibers; childhood onset; raised CPK (HP:0003236) 444-22000; >53y walking (-HP:0006957) - exercise-induced myalgia, fatigue, hammer toes - - - Tom Winder



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000078970 DNA PCR;SEQ - - ANO5 2 Tom Winder



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 Maternal (confirmed) +/. g.22242653dupA g.22221107dupA - - ANO5_000004 - PubMed: Milone 2011 - - Germline - - - 0 - Tom Winder ANO5 - - - - - 5 NM_213599.2:c.191dupA - - r.(?) p.(Asn64Lysfs*15) - - - - - - - - - - - - - - - - - - -
11 Paternal (confirmed) +/. g.22291977A>G g.22270431A>G - - ANO5_000029 - PubMed: Milone 2011 - - Germline - - - 0 - Tom Winder ANO5 - - - - - 18 NM_213599.2:c.2018A>G - - r.(?) p.(Tyr673Cys) - - - - - - - - - - - - - - - - - - -
Legend