Individual #00386175

ID_report RPN-288
Reference PubMed: Rodriguez-Munoz 2020
Remarks family fRPN-131, 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     
0000279978 - - retinitis pigmentosa Familial, autosomal recessive 44y 38y - - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000387404 DNA SEQ-NG-I blood - USH2A 6 LOVD



Variants

6 entries on 1 page. Showing entries 1 - 6.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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IDbase Accession Number     

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Predicted     

Type/DNA     

CpG     

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mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
1 Unknown ?/. ACMG VUS g.213032389C>T g.212859047C>T FLVCR1:NM_014053 c.C595T, p.L199F - FLVCR1_000008 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - LOVD FLVCR1 - - - - - NM_014053.3:c.595C>T - r.(?) p.(Leu199Phe) - - - - - - - - - - - - - -
1 Unknown +?/. ACMG likely pathogenic g.215848678C>T g.215675336C>T USH2A:NM_206933 c.G12575A, p.R4192H - USH2A_000438 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - LOVD USH2A - - - - - NM_206933.2:c.12575G>A - r.(?) p.(Arg4192His) - - - - - - - - - - - - - -
1 Unknown +?/. ACMG likely pathogenic g.216496976G>A g.216323634G>A USH2A:NM_206933 c.C1390T, p.R464C - USH2A_000221 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - LOVD USH2A - - - - - NM_206933.2:c.1390C>T - r.(?) p.(Arg464Cys) - - - - - - - - - - - - - -
8 Unknown ?/. ACMG VUS g.55539482G>C g.54626922G>C RP1:NM_006269 c.G3040C, p.D1014H - RP1_000234 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - LOVD RP1 - - - - - NM_006269.1:c.3040G>C - r.(?) p.(Asp1014His) - - - - - - - - - - - - - -
8 Unknown ?/. ACMG VUS g.55540778G>A g.54628218G>A RP1:NM_006269 c.G4336A, p.E1446K - RP1_000396 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - LOVD RP1 - - - - - NM_006269.1:c.4336G>A - r.(?) p.(Glu1446Lys) - - - - - - - - - - - - - -
10 Unknown ?/. ACMG VUS g.48388252C>A g.47351110G>T RBP3:NM_002900 c.G2626T, p.A876S - RBP3_000118 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - LOVD RBP3 - - - - - NM_002900.2:c.2626G>T - r.(?) p.(Ala876Ser) - - - - - - - - - - - - - -
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