Individual #00372628

ID_report RP373
Reference PubMed: Xu 2014
Remarks family
Gender F
Consanguinity -
Country China
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases retinal disease
Owner name LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

retinal disease (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     
0000267907 see paper; ... retinitis pigmentosa - Familial, autosomal dominant 45y - 12y - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000373860 DNA SEQ-NG - gene panel - 5 LOVD



Variants

5 entries on 1 page. Showing entries 1 - 5.
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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     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
1 Unknown ?/. - VUS g.? - c.4822A>G (K1608E) - NPHS2_000000 0/1266 control chromosomes PubMed: Xu 2015 - - Germline - 1/314 case chromosomes - 0 - LOVD COL11A1 - - - - - - NM_001190709.1:c.? - r.? p.? - - - - - - - - - - - - - - - - - - - -
3 Unknown ?/. - VUS g.50231599T>C g.50194166T>C - - GNAT1_000015 0/1266 control chromosomes PubMed: Xu 2015 - - Germline - 2/314 case chromosomes - 0 - LOVD GNAT1 - - - - - - NM_144499.2:c.653T>C - r.(?) p.(Ile218Thr) - - - - - - - - - - - - - - - - - - - -
3 Unknown +/. - pathogenic (dominant) g.129252547G>T g.129533704G>T - - RHO_000174 - PubMed: Xu 2014 - - Germline - - - 0 - LOVD RHO - - - - - - NM_000539.3:c.1033G>T - r.(?) p.(Val345Leu) - - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. - VUS g.10796248C>T g.10796015C>T - - MAK_000086 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - 0 - LOVD MAK - - - - - - NM_005906.4:c.1126G>A - r.(?) p.(Val376Ile) - - - - - - - - - - - - - - - - - - - -
6 Unknown +?/. - likely pathogenic (recessive) g.65300349A>G g.64590456A>G - - EYS_000648 - PubMed: Xu 2014 - - Germline - 2/314 case chromosomes - 0 - LOVD EYS - - - - - - NM_001142800.1:c.5411T>C - r.(?) p.(Ile1804Thr) - - - - - - - - - - - - - - - - - - - -
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