Individual #00372654

ID_report RP337
Reference PubMed: Xu 2014
Remarks -
Gender M
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     
0000267933 see paper; ... retinitis pigmentosa - Familial, autosomal recessive 24y - 12y - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000373886 DNA SEQ-NG - gene panel - 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     

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 Parent #1 +/. - pathogenic (recessive) g.? - c.1340A> - NPHS2_000000 - PubMed: Xu 2014 - - Germline - - - 0 - LOVD USH2A - - - - - - NM_206933.2:c.? - r.? p.? - - - - - - - - - - - - - - - - - - - -
1 Unknown +/. - pathogenic (recessive) g.215813954G>A g.215640612G>A - - USH2A_002041 - PubMed: Xu 2014 - - Germline - - - 0 - LOVD USH2A - - - - - - NM_206933.2:c.14914C>T - r.(?) p.(Arg4972Cys) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.215916510G>C g.215743168G>C - - USH2A_002048 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - 0 - LOVD USH2A - - - - - - NM_206933.2:c.11548+9C>G - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Unknown +/. - pathogenic (recessive) g.216251430C>T g.216078088C>T - - USH2A_002065 - PubMed: Xu 2014 - - Germline - - - 0 - LOVD USH2A - - - - - - NM_206933.2:c.5572+1G>A - r.spl p.? - - - - - - - - - - - - - - - - - - - -
3 Unknown ?/. - VUS g.100963338T>C g.101244494T>C - - IMPG2_000135 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - 0 - LOVD IMPG2 - - - - - - NM_016247.3:c.1837A>G - r.(?) p.(Thr613Ala) - - - - - - - - - - - - - - - - - - - -
4 Unknown +?/. - likely pathogenic (recessive) g.660344G>C g.666555G>C - - PDE6B_000112 - PubMed: Xu 2014 - rs199521106 Germline - 1/314 case chromosomes - 0 - LOVD PDE6B - - - - - - NM_000283.3:c.2293G>C - r.(?) p.(Ala765Pro) - - - - - - - - - - - - - - - - - - - -
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