Individual #00143979

ID_report -
Reference PubMed: Jinda 2014
Remarks -
Gender F
Consanguinity no
Country Thailand
Population Thai
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases retinal disease
Owner name Rob W.J. Collin
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2017-11-28 22:45:32 +01:00 (CET)
Date last edited N/A


Phenotypes

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     
0000116757 At age 29: Poor night vision; BCVA R 6/9 L 6/9; visual evoked potential R/L normal; fundus Mildly pale optic disc; generalized RPE changes without macular involvement; mild bone spicules retinitis pigmentosa - Isolated (sporadic) - - 19y - - Rob W.J. Collin



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000144838 DNA SEQ-NG - - EYS 2 Rob W.J. Collin



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
6 Unknown +?/. - likely pathogenic g.64940493C>T g.64230600C>T - - EYS_000023 - PubMed: Jinda 2014 - - Germline yes ExAC: 1, 18960, 0, 0.00005274 - - - Rob W.J. Collin EYS - - - - 31 NM_001142800.1:c.6416G>A - r.(?) p.(Cys2139Tyr) - - - - - - - - - - - - - -
6 Maternal (confirmed) +/+ - pathogenic g.66094318del g.65384425del 1260_1260delG - EYS_000272 - PubMed: Jinda 2014 - - Germline yes - - - - Rob W.J. Collin EYS - - - - 8 NM_001142800.1:c.1260del - r.(?) p.(Asn421Metfs*8) - - - - - - - - - - - - - -
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