Individual #00144156

ID_report -
Reference PubMed: Katagiri 2014
Remarks index patient
Gender F
Consanguinity no
Country Japan
Population Japanese
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases retinal disease
Owner name Rob W.J. Collin
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2017-11-28 22:45:32 +01:00 (CET)
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     
0000116934 - retinitis pigmentosa - Familial, autosomal recessive - - - - - Rob W.J. Collin



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000145015 DNA SEQ-NG-I - - EYS 11 Rob W.J. Collin



Variants

11 entries on 1 page. Showing entries 1 - 11.
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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     
1 Unknown ?/. - VUS g.10042628C>T g.9982570C>T C709T - NMNAT1_000017 - PubMed: Katagiri 2014 - - Germline - - - - - LOVD NMNAT1 - - - - 5 NM_022787.3:c.709C>T - r.(?) p.(Arg237Cys) - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.19547297A>C g.19220803A>C T2633G - EMC1_000072 - PubMed: Katagiri 2014 - - Germline - - - - - LOVD EMC1 - - - - 21 NM_015047.2:c.2633T>G - r.(?) p.(Leu878Arg) - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.211654669A>T g.211481327A>T T89A - RD3_000027 - PubMed: Katagiri 2014 - - Germline - - - - - LOVD RD3 - - - - 2 NM_001164688.1:c.89T>A - r.(?) p.(Met30Lys) - - - - - - - - - - - - - -
4 Unknown ?/. - VUS g.6296897A>C g.6295170A>C A842C - WFS1_000819 - PubMed: Katagiri 2014 - - Germline - - - - - LOVD WFS1 - - - - 7 NM_006005.3:c.842A>C - r.(?) p.(Asp281Ala) - - - - - - - - - - - - - -
5 Unknown ?/. - VUS g.178410178G>T g.178983177G>T C2169A - GRM6_000112 - PubMed: Katagiri 2014 - - Germline - - - - - LOVD GRM6 - - - - 9 NM_000843.3:c.2169C>A - r.(?) p.(Ser723Arg) - - - - - - - - - - - - - -
6 Paternal (confirmed) +/+ - pathogenic g.64694329G>T g.63984436G>T p.C2334X - EYS_000128 - PubMed: Katagiri 2014 - - Germline yes - - - - Rob W.J. Collin EYS - - - - 35 NM_001142800.1:c.7002C>A - r.(?) p.(Cys2344*) - - - - - - - - - - - - - -
6 Maternal (confirmed) +/+ - pathogenic g.64776242del g.64066349del p.P2238PfsX16 - EYS_000137 - PubMed: Katagiri 2014 - - Germline yes - - - - Rob W.J. Collin EYS - - - - 33 NM_001142800.1:c.6714del - r.(?) p.(Ile2239Serfs*17) - - - - - - - - - - - - - -
8 Unknown ?/. - VUS g.10466998G>T g.10609488G>T C4610A - RP1L1_000468 - PubMed: Katagiri 2014 - - Germline - - - - - LOVD RP1L1 - - - - 4 NM_178857.5:c.4610C>A - r.(?) p.(Ala1537Glu) - - - - - - - - - - - - - -
10 Unknown ?/. - VUS g.73326515C>T g.71566758C>T C446T - CDH23_000887 - PubMed: Katagiri 2014 - - Germline - - - - - LOVD CDH23 - - - - 7 NM_022124.5:c.446C>T - r.(?) p.(Thr149Met) - - - - - - - - - - - - - -
11 Unknown ?/. - VUS g.17531103T>G g.17509556T>G A1813C - USH1C_000216 - PubMed: Katagiri 2014 - - Germline - - - - - LOVD USH1C - - - - 18 NM_153676.3:c.1813A>C - r.(?) p.(Ile605Leu) - - - - - - - - - - - - - -
16 Unknown ?/. - VUS g.49672108C>T g.49638197C>T G955A - ZNF423_000068 - PubMed: Katagiri 2014 - - Germline - - - - - LOVD ZNF423 - - - - 4 NM_015069.3:c.955G>A - r.(?) p.(Ala319Thr) - - - - - - - - - - - - - -
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