Individual #00386229

ID_report RPN-410
Reference PubMed: Rodriguez-Munoz 2020
Remarks family fRPN-187, proband
Gender F
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     
0000280032 - - Stargardt Disease Familial, autosomal recessive 59y 40y - - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000387458 DNA SEQ-NG-I blood - ABCA4 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 pathogenic g.94496548G>A g.94030992G>A ABCA4:NM_000350 c.4253+4C>T, p.? - ABCA4_000088 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - LOVD ABCA4 - - - - - NM_000350.2:c.4253+4C>T - r.spl? p.(?) - - - - - - - - - - - - - -
1 Unknown +?/. ACMG likely pathogenic g.94510247C>A g.94044691C>A ABCA4:NM_000350 c.G2972T, p.G991V - ABCA4_000668 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - LOVD ABCA4 - - - - - NM_000350.2:c.2972G>T - r.(?) p.(Gly991Val) - - - - - - - - - - - - - -
X Unknown ?/. ACMG VUS g.49087700G>C g.49231238G>C CACNA1F:NM_005183 c.C345G, p.F115L - CACNA1F_000427 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - LOVD CACNA1F - - - - - NM_001256789.1:c.345C>G, NM_005183.2:c.345C>G - r.(?) p.(Phe115Leu) - - - - - - - - - - - - - -
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