Individual #00386172

ID_report RPN-284
Reference PubMed: Rodriguez-Munoz 2020
Remarks -
Gender ?
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     
0000279975 - Stargardt disease - Unknown - - - - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000387401 DNA SEQ-NG-I blood - KIZ 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)     

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     
4 Unknown ?/. ACMG VUS g.647722C>G g.653933C>G PDE6B:NM_000283 c.C793G, p.R265G - PDE6B_000278 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - LOVD PDE6B - - - - - NM_000283.3:c.793C>G - r.(?) p.(Arg265Gly) - - - - - - - - - - - - - -
8 Unknown ?/. ACMG VUS g.10469152C>T g.10611642C>T RP1L1:NM_178857 c.G2456A, p.G819D - RP1L1_000094 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - LOVD RP1L1 - - - - - NM_178857.5:c.2456G>A - r.(?) p.(Gly819Asp) - - - - - - - - - - - - - -
8 Unknown ?/. ACMG VUS g.10480165C>G g.10622655C>G RP1L1:NM_178857 c.G547C, p.G183R - RP1L1_000496 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - LOVD RP1L1 - - - - - NM_178857.5:c.547G>C - r.(?) p.(Gly183Arg) - - - - - - - - - - - - - -
14 Unknown ?/. ACMG VUS g.89338702A>G g.88872358A>G TTC8:NM_144596 c.A1253G, p.Q418R - TTC8_000029 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - LOVD TTC8 - - - - - NM_144596.2:c.1253A>G - r.(?) p.(Gln418Arg) - - - - - - - - - - - - - -
19 Unknown ?/. ACMG VUS g.54621957C>G g.54118577C>G PRPF31:NM_015629 c.C182G, p.A61G - PRPF31_000215 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - LOVD PRPF31 - - - - - NM_015629.3:c.182C>G - r.(?) p.(Ala61Gly) - - - - - - - - - - - - - -
20 Unknown ?/. ACMG VUS g.21209730A>T g.21229092A>T KIZ:NM_001163022 c.1450A>T, p.D484V - KIZ_000030 error in annotation: c.1451A>T and not c.1450A>T causes p.D484V; different transcript NM_001163022.2(KIZ):c.1451A>T, p.(Asp484Val), heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - LOVD KIZ - - - - - NM_018474.4:c.1760A>T - r.(?) p.(Asp587Val) - - - - - - - - - - - - - -
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