Individual #00000101

ID_report -
Reference PubMed: Bell 2011
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases retinal disease
Owner name Global Variome, with Curator vacancy
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Gerard C.P. Schaafsma
Date created 2011-04-06 16:20:25 +02:00 (CEST)
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     
0000278359 diffuse retinal, retinal pigment epithelium, and choroidal atrophy without evidence for choroidal neovascularization Sorsby fundus dystrophy - Familial, autosomal dominant 64y - 55y - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000101 DNA SEQ-NG - - ATP7B, ETFB, GLB1, NPHS1, SERPINA1 7 Global Variome, with Curator vacancy



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     

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Re-site     

VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

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Exon_old     

Function/GVS     

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Predict/MutationTaster     

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Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
1 Unknown ?/. - VUS g.43804340G>A g.43338669G>A - - MPL_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma CYP4V2, IMPG1, MPL, RHO, TIMP3 - - - - , 4i NM_207352.3:c.1198C>T, NM_001563.2:c.1824+1G>A, NM_005373.2:c.340G>A, NM_000539.3:c.936+1G>T, NM_000362.4:c.572A>G - r.spl, r.(?) p.(Arg400Cys), p.(Val114Met), p.?, p.(Tyr191Cys) - - - - - - - - - - - - - -
3 Both (homozygous) ?/. - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - Gerard C.P. Schaafsma GLB1, TMPPE - - - - - NM_000404.2:c.29C>T, NM_001039770.2:c.-447C>T - r.(?), r.(=) p.(Pro10Leu), p.(=) - - - - - - - - - - - - - -
13 Unknown ?/. - VUS g.52508989G>A g.51934853G>A - - ATP7B_000004 - - - - Germline - - - - - Gerard C.P. Schaafsma ATP7B - - - - - NM_000053.3:c.4301C>T - r.(?) p.(Thr1434Met) - - - - - - - - - - - - - -
14 Unknown ?/. - VUS g.94844843T>G g.94378506T>G - - SERPINA1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 - - - - - NM_001127701.1:c.1200A>C - r.(?) p.(Glu400Asp) - - - - - - - - - - - - - -
14 Unknown ?/. - VUS g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 - - - - - NM_001127701.1:c.374G>A - r.(?) p.(Arg125His) - - - - - - - - - - - - - -
19 Unknown ?/. - VUS g.36340506A>C g.35849604A>C - - NPHS1_000005 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 - - - - - NM_004646.3:c.658T>G - r.(?) p.(Ser220Ala) - - - - - - - - - - - - - -
19 Unknown ?/. - VUS g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ETFB - - - - - NM_001014763.1:c.734C>T, NM_001985.2:c.461C>T - r.(?) p.(Thr245Met), p.(Thr154Met) - - - - - - - - - - - - - -
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