Individual #00078733

ID_report -
Reference PubMed: Jarry 2007
Remarks family 5 affected siblings, parents first-degree cousins
Gender F
Consanguinity yes
Country Canada
Population French Canadian
Age/Death >68y (later than 68 years)
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases LGMD-2L
Owner name Johan den Dunnen


Phenotypes

dystrophy, muscular, limb-girdle, type 2L (LGMD-2L) (LGMD-2L)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000058492 iliopsoas MRC 4, quadriceps atrophy, quadriceps MRC 5, calf muscles no weakness, no distal weakness ; raised CPK (HP:0003236) 1649; >68y walking (-HP:0006957) - - Isolated (sporadic) 68y - 0y - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000078921 DNA;RNA RT-PCR;SEQ - - ANO5 2 Johan den Dunnen



Variants

2 entries on 1 page. Showing entries 1 - 2.
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     
11 Paternal (confirmed) +/. g.22277031C>G g.22255485C>G - - ANO5_000003 identified through linkage; shared 3.6 Mb haplotype; not in 372 control chromosomes PubMed: Bolduc 2010, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen ANO5 - - - - - 13 NM_213599.2:c.1295C>G - - r.1295_1332del p.Ala432Glyfs*49 - - - - - - - - - - - - - - - - - - -
11 Maternal (confirmed) +/. g.22277031C>G g.22255485C>G - - ANO5_000003 identified through linkage; shared 3.6 Mb haplotype; not in 372 control chromosomes PubMed: Bolduc 2010, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen ANO5 - - - - - 13 NM_213599.2:c.1295C>G - - r.1295_1332del p.Ala432Glyfs*49 - - - - - - - - - - - - - - - - - - -
Legend