Individual #00059906

ID_report 20797687-Fam3Pat1
Reference PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010
Remarks -
Gender F
Consanguinity -
Country Norway
Population Norwegian
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases PHARC
Owner name Jacopo Celli
Database submission license No license selected
Created by Jacopo Celli


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     
0000046398 - Unknown 36y - 10y - - pes cavus, normal sensibility, reduced tendon reflexes in lower limbs; demyelinating polyneuropathy; 10y-deaf; ataxia; Atrophy of vermis and medulla oblongata; Extensor plantar response at right side; spasticity; 36y-Retinitis Pigmentosa ; ERG rod-cone dystrophy; 32y-cataract sensorineural - Jacopo Celli



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000059893 DNA SEQ - - ABHD12 1 Jacopo Celli



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

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     

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     

Legacy protein change     

Protein level     
20 Both (homozygous) +/. - pathogenic g.25304045_25304046delinsAAA g.25323409_25323410delinsAAA 337_338delGAinsTTT [Asp113PhefsX15] - ABHD12_000001 - PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 - - Unknown - - - 0 - Jacopo Celli ABHD12 - - - - - 3 NM_001042472.2:c.337_338delinsTTT - r.(?) p.(Asp113Phefs*15) - - - - - - - - - - - - - - - - - - - -
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