Individual #00386239

ID_report RPN-451
Reference PubMed: Rodriguez-Munoz 2020
Remarks family fRPN-203, proband
Gender M
Consanguinity -
Country Spain
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases retinal disease
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2021-10-20 11:58:39 +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     
0000280042 - - early onset retinitis pigmentosa Familial, autosomal recessive 29y 12y - - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000387468 DNA SEQ-NG-I blood - PRCD 3 LOVD



Variants

3 entries on 1 page. Showing entries 1 - 3.
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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 ?/. ACMG VUS g.216270469G>A g.216097127G>A USH2A:NM_206933 c.C4714T, p.L1572F - USH2A_000038 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - LOVD USH2A - - - - - NM_206933.2:c.4714C>T - r.(?) p.(Leu1572Phe) - - - - - - - - - - - - - -
17 Unknown +?/. ACMG likely pathogenic g.74536302G>C g.76540220G>C PRCD:NM_001077620 c.74+5G>C, p.? - PRCD_000012 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - LOVD PRCD - - - - - NM_001077620.2:c.74+5G>C - r.spl? p.(?) - - - - - - - - - - - - - -
17 Unknown +/. ACMG pathogenic g.74536614_74536623dup g.76540532_76540541dup PRCD:NM_001077620 c.102_111dup, p.Ser38X - PRCD_000013 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - LOVD PRCD - - - - - NM_001077620.2:c.102_111dup - r.(?) p.(Ser38*) - - - - - - - - - - - - - -
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