Individual #00376758

ID_report 18
Reference PubMed: Wang 2014
Remarks -
Gender M
Consanguinity -
Country United States
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases retinal disease
Owner name LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-06-25 14:31:53 +02:00 (CEST)
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     
0000271969 - retinitis pigmentosa - Familial, autosomal recessive 76y - - - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000377964 DNA SEQ-NG - 66-gene panel - 5 LOVD



Variants

5 entries on 1 page. Showing entries 1 - 5.
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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     
1 Unknown ?/. - VUS g.197297642G>T g.197328512G>T - - CRB1_000411 - PubMed: Wang 2014 - rs140428156 Germline - - - - - LOVD CRB1 - - - - - NM_201253.2:c.161G>T - r.(?) p.(Cys54Phe) - - - - - - - - - - - - - -
6 Both (homozygous) +?/. - likely pathogenic g.10791926_10791927insN[?] - NM_001242957.1:c.1297_1298 insAlu - MAK_000093 - PubMed: Wang 2014 - - Germline - - - - - LOVD MAK - - - - - NM_005906.4:c.1297_1298insN[?] - r.? p.? - - - - - - - - - - - - - -
6 Unknown ?/. - VUS g.66053934T>G g.65344041T>G - - EYS_000668 - PubMed: Wang 2014 - rs61753611 Germline - - - - - LOVD EYS - - - - - NM_001142800.1:c.1596A>C - r.(?) p.(Lys532Asn) - - - - - - - - - - - - - -
11 Unknown ?/. - VUS g.119213319C>A g.119342609C>A - - C1QTNF5_000008 - PubMed: Wang 2014 - rs145881139 Germline - - - - - LOVD MFRP - - - - - NM_031433.2:c.1374G>T - r.(?) p.(Leu458Phe) - - - - - - - - - - - - - -
14 Unknown ?/. - VUS g.89319310C>T - NM_198309.2:c.595-5C>T - TTC8_000048 - PubMed: Wang 2014 - rs137853922 Germline - - - - - LOVD TTC8 - - - - - NM_144596.2:c.625-5C>T - r.(?) p.(=) - - - - - - - - - - - - - -
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