Individual #00334107

ID_report 644
Reference PubMed: Stone 2017
Remarks family, 2 affected
Gender F
Consanguinity -
Country (United States)
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 2
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     
0000252292 clinical category IB8 syndromic retinitis pigmentosa (Heimler syndrome) - Familial, autosomal recessive 14y - - - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000335333 DNA SEQ-NG - - PEX6 2 LOVD



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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     

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 Parent #2 +?/. - likely pathogenic g.42935189G>A g.42967451G>A - - PEX6_000018 - PubMed: Stone 2017 - - Germline - - - 0 - LOVD PEX6 - - - - - - NM_000287.3:c.1801C>T - r.(?) p.(Arg601Trp) - - - - - - - - - - - - - - - - - - -
6 Parent #1 +?/. - likely pathogenic g.42946144A>T g.42978406A>T - - PEX6_000236 - PubMed: Stone 2017 - - Germline - - - 0 - LOVD PEX6 - - - - - - NM_000287.3:c.745T>A - r.(?) p.(Trp249Arg) - - - - - - - - - - - - - - - - - - -
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