Individual #00151830

ID_report 27890673-FamPatII1
Reference PubMed: Tingaud-Sequeira 2017
Remarks 3-generation family, 1 affected, unaffected heterozygous carrier parents
Gender F
Consanguinity no
Country Sweden
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases PHARC
Owner name Johan den Dunnen


Phenotypes

polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract (PHARC) (PHARC)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Hearing/Loss     

Protein     

Owner     
0000124196 - Familial, autosomal recessive 31y - - - - see paper; ... - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000152687 DNA SEQ - - ABHD12 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     
3 Maternal (confirmed) -/. g.193332592_193332609del g.193614803_193614820del 113_130del18 - OPA1_000082 - PubMed: Tingaud-Sequeira 2017 - rs761926672 Germline - - - 0 - Johan den Dunnen OPA1 - - - - - 2 NM_015560.2:c.113_130del, NM_130837.2:c.113_130del - , benign r.(?) p.(Arg38_Ser43del) - - - - - - - - - - - - - - - - - - -
20 Both (homozygous) +/. g.25289122G>C g.25308486G>C - - ABHD12_000039 - PubMed: Tingaud-Sequeira 2017 - - Germline yes - - 0 - Johan den Dunnen ABHD12 - - - - - 8 NM_001042472.2:c.758C>G - - r.(?) p.(Thr253Arg) - - - - - - - - - - - - - - - - - - -
Legend