Individual #00065234

ID_report -
Reference Fichna ESHG2016 P10.20
Remarks 3-generation family, 2 affecteds (2M)
Gender M
Consanguinity no
Country Poland
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 2
Diseases LGMD
Owner name Johan den Dunnen


Phenotypes

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

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000051341 - - - Familial, autosomal recessive - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000065386 DNA SEQ;SEQ-NG - - ANO5, BAG3 3 Johan den Dunnen



Variants

3 entries on 1 page. Showing entries 1 - 3.
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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     
10 Parent #1 ?/. g.121431813C>T g.119672301C>T S185L - BAG3_000019 - Fichna ESHG2016 P10.20 - - Germline - - - 0 - Johan den Dunnen BAG3 - - - - - 3 NM_004281.3:c.554C>T - - r.(?) p.(Ser185Leu) - - - - - - - - - - - - - - - - - - -
11 Parent #2 +/. g.(22276938G>Aˆ22276939G>A) - W401X - ANO5_000076 - Fichna ESHG2016 P10.20 - - Germline yes 1/82 cases LGMD - 0 - Johan den Dunnen ANO5 - - - - - 13 NM_213599.2:c.(1202G>Aˆ1203G>A) - - r.(?) p.(Trp401*) - - - - - - - - - - - - - - - - - - -
11 Parent #1 +/. g.22242704A>G g.22221158A>G D81G - ANO5_000056 - Fichna ESHG2016 P10.20 - - Germline yes 1/82 cases LGMD - 0 - Johan den Dunnen ANO5 - - - - - 5 NM_213599.2:c.242A>G - - r.(?) p.(Asp81Gly) - - - - - - - - - - - - - - - - - - -
Legend