Individual #00333358

ID_report Pat8
Reference PubMed: Costa 2017
Remarks -
Gender M
Consanguinity -
Country Brazil
Population -
Age at death -
VIP 0
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


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     
0000251545 see paper; ... retinitis pigmentosa - Familial, X-linked recessive 40y - - - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000334583 DNA SEQ-NG - 132-gene panel RPGR 4 LOVD



Variants

4 entries on 1 page. Showing entries 1 - 4.
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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/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     
4 Unknown ?/. - VUS g.123663402G>A g.122742247G>A - - BBS12_000046 - PubMed: Costa 2017 - - Germline - - - 0 - LOVD BBS12 - - - - - NM_001178007.1:c.355G>A - r.(?) p.(Gly119Ser) - - - - - - - - - - - - - - - - - - -
10 Unknown ?/. - VUS g.73558133G>C g.71798376G>C - - CDH23_000543 - PubMed: Costa 2017 - - Germline - - - 0 - LOVD CDH23 - - - - - NM_022124.5:c.6852G>C - r.(?) p.(Leu2284=) - - - - - - - - - - - - - - - - - - -
11 Unknown ?/. - VUS g.? - 566G>A (Arg189Gln) - DRD4_000002 - PubMed: Costa 2017 - - Germline - - - 0 - LOVD USH1C - - - - - NM_153676.3:c.? - r.? p.? - - - - - - - - - - - - - - - - - - -
X Maternal (inferred) +/. - pathogenic g.38158216_38158217del g.38298963_38298964del 1243_1244delAG - RPGR_000261 - PubMed: Costa 2017 - - Germline - - - 0 - LOVD RPGR - - - - - NM_001034853.1:c.1243_1244delAG - r.(?) p.(Arg415Glyfs*37) - - - - - - - - - - - - - - - - - - -
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