Individual #00263907

ID_report FamAPatII1
Reference PubMed: Haer-Wigman 2015
Remarks 2-generation family, 1affected, unaffected heterozygous carrier parents
Gender F
Consanguinity -
Country Israel
Population Jewish-Ashkenazi
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases retinal disease
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

retinal disease (retinal disease)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000201814 onset childhood, night blindness; extensive atrophic changes posterior pole and peripheral retina with bone spicule pigmentation at midperiphery; visual acuity OD 20/30, OS 20/200 retinitis pigmentosa RP-73 Familial, autosomal recessive 60y 34y - night blindness - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000265018 DNA;RNA RT-PCR;SEQ;SEQ-NG - WES HGSNAT 1 Johan den Dunnen



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     

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Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

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VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

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     
8 Both (homozygous) +/. - pathogenic (recessive) g.43013853A>T g.43158710A>T - - HGSNAT_000124 - PubMed: Haer-Wigman 2015 - - Germline - - - 0 - Johan den Dunnen HGSNAT - - - - - - NM_152419.2:c.370A>T - r.[235_371del,370a>u] p.[Cys79Valfs*20,Arg124Trp) - - - - - - - - - - - - - - - - - - -
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