Individual #00385018

ID_report 19310
Reference PubMed: Xu 2020
Remarks -
Gender ?
Consanguinity no
Country China
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 2021-10-06 17:52:46 +02:00 (CEST)
Date last edited 2021-10-08 12:08:09 +02:00 (CEST)


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     
0000278802 no nyctalopia/photophobia, nystagmus, ERG extinguished, best corrected visual acuity right/left eye: HM/HM Leber congenital amaurosis Leber congenital amaurosis Isolated (sporadic) 26y - 1y - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000386247 DNA SEQ-NG - targeted next-generation sequencing RPGRIP1 2 LOVD



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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     
14 Parent #1 +/. ACMG pathogenic g.21762904C>T g.21294745C>T RPGRIP1 NM_020366: g.6807C>T, c.154C>T, p.R52X - RPGRIP1_000003 - PubMed: Xu 2020 - - Germline yes - - - - LOVD RPGRIP1 - - - - - NM_020366.3:c.154C>T - r.(?) p.(Arg52*) - - - - - - - - - - - - - -
14 Parent #2 +/. ACMG pathogenic g.21813304C>T g.21345145C>T RPGRIP1 NM_020366: g.57207C>T, c.3565C>T, p.R1189X - RPGRIP1_000002 - PubMed: Xu 2020 - - Germline yes - - - - LOVD RPGRIP1 - - - - - NM_020366.3:c.3565C>T - r.(?) p.(Arg1189*) - - - - - - - - - - - - - -
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