Individual #00375422

ID_report RP#015
Reference PubMed: Katagiri 2014
Remarks family
Gender -
Consanguinity -
Country Japan
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     
0000270636 see paper; ... retinitis pigmentosa - Familial, autosomal recessive - - - - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000376619 DNA SEQ-NG - WES - 7 LOVD



Variants

7 entries on 1 page. Showing entries 1 - 7.
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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/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     
6 Unknown ?/. - VUS g.72892840G>T g.72183137G>T G1666T - RIMS1_000096 - PubMed: Katagiri 2014 - - Germline - - - 0 - LOVD RIMS1 - - - - 6 NM_014989.5:c.1666G>T - r.(?) p.(Val556Phe) - - - - - - - - - - - - - - - - - - -
8 Unknown ?/. - VUS g.10464767G>T g.10607257G>T C6841A - RP1L1_000466 - PubMed: Katagiri 2014 - - Germline - - - 0 - LOVD RP1L1 - - - - 4 NM_178857.5:c.6841C>A - r.(?) p.(Pro2281Thr) - - - - - - - - - - - - - - - - - - -
8 Unknown ?/. - VUS g.55538467dup g.54625907dup 2020dupA - RP1_000330 - PubMed: Katagiri 2014 - - Germline - - - 0 - LOVD RP1 - - - - 4 NM_006269.1:c.2025dup - r.(?) p.(Ser676IlefsTer22) - - - - - - - - - - - - - - - - - - -
9 Unknown ?/. - VUS g.2718241G>A g.2718241G>A G502A - KCNV2_000109 - PubMed: Katagiri 2014 - - Germline - - - 0 - LOVD KCNV2 - - - - 1 NM_133497.3:c.502G>A - r.(?) p.(Gly168Arg) - - - - - - - - - - - - - - - - - - -
10 Unknown ?/. - VUS g.73569606G>A g.71809849G>A G8752A - CDH23_000890 - PubMed: Katagiri 2014 - - Germline - - - 0 - LOVD CDH23 - - - - 59 NM_022124.5:c.8752G>A - r.(?) p.(Asp2918Asn) - - - - - - - - - - - - - - - - - - -
10 Unknown ?/. - VUS g.102770422C>T g.101010665C>T G2224A - PDZD7_000065 - PubMed: Katagiri 2014 - - Germline - - - 0 - LOVD PDZD7 - - - - 15 NM_001195263.1:c.2224G>A - r.(?) p.(Ala742Thr) - - - - - - - - - - - - - - - - - - -
20 Unknown ?/. - VUS g.10393406A>G g.10412758A>G T757C - MKKS_000060 - PubMed: Katagiri 2014 - rs201785599 Germline - - - 0 - LOVD MKKS - - - - 3 NM_170784.2:c.757T>C - r.(?) p.(Ser253Pro) - - - - - - - - - - - - - - - - - - -
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