Individual #00373510

ID_report RH16
Reference PubMed: Liu 2015
Remarks -
Gender -
Consanguinity -
Country China
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     
0000268786 see paper; ... retinitis pigmentosa, macula degeneration - Familial, autosomal recessive - - - - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000374745 DNA SEQ-NG - 316-gene panel ABCA4 4 LOVD



Variants

4 entries on 1 page. Showing entries 1 - 4.
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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     
1 Unknown ?/. - VUS g.94476901A>G g.94011345A>G - - ABCA4_001486 variant found in controls PubMed: Liu 2015 - - Germline no - - 0 - LOVD ABCA4 - - - - - - NM_000350.2:c.5501T>C - r.(?) p.(Ile1834Thr) - - - - - - - - - - - - - - - - - - -
3 Unknown ?/. - VUS g.129247612del g.129528769del c.34del - RHO_000165 variant found in controls PubMed: Liu 2015 - - Germline no - - 0 - LOVD RHO - - - - - - NM_000539.3:c.36del - r.(?) p.(Phe13SerfsTer35) - - - - - - - - - - - - - - - - - - -
8 Unknown ?/. - VUS g.77895895_77895898del g.76983659_76983662del - - PEX2_000044 variant found in controls PubMed: Liu 2015 - - Germline no - - 0 - LOVD PEX2 - - - - - - NM_000318.2:c.521_524del - r.(?) p.(His174LeufsTer17) - - - - - - - - - - - - - - - - - - -
10 Unknown ?/. - VUS g.50678783C>T g.49470737C>T - - ERCC6_000124 variant found in controls PubMed: Liu 2015 - - Germline no - - 0 - LOVD ERCC6 - - - - - - NM_000124.2:c.3223G>A - r.(?) p.(Ala1075Thr) - - - - - - - - - - - - - - - - - - -
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