Individual #00016585

ID_report -
Reference PubMed: Sergouniotis 2014
Remarks 3-generation family, 1 affected, unaffected carrier parents
Gender M
Consanguinity ?
Country -
Population European
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases RD
Owner name Marianne Vos (LOVD-team)
Database submission license No license selected
Created by Marianne Vos (LOVD-team)
Date created 2014-05-09 12:51:03 +02:00 (CEST)
Date last edited 2023-02-23 09:56:23 +01:00 (CET)


Phenotypes

dystrophy, retinal (RD) (RD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000015238 central and peripheral cone dysfunction with preservation of rod photoreceptor function - - Isolated (sporadic) 53y - - - - Marianne Vos (LOVD-team)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016537 DNA SEQ - - TTLL5 1 Marianne Vos (LOVD-team)



Variants

1 entry on 1 page. Showing entry 1.
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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     
14 Both (homozygous) +?/? - likely pathogenic g.76231034G>A g.75764691G>A - - TTLL5_000006 - PubMed: Sergouniotis 2014 - - Germline ? 1/55 cases - - - Marianne Vos (LOVD-team) TTLL5 - - - - 19 NM_015072.4:c.1627G>A - r.(?) p.(Glu543Lys) - - - - - - - - - - - - - -
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