Individual #00407974

ID_report 4
Reference PubMed: Fahim 2019
Remarks -
Gender F
Consanguinity -
Country United States
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases retinal disease
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-04-11 18:59:20 +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     
0000300104 best corrected visual acuity right; left eye: light perception; hand movements (30y), visual field: 1deg IV4e center right eye, small peripheral island both eyes (30y), electroretinography: Cones nonrecordable, rods 25% both eyes (7y) - early onset retinal degeneration Familial, autosomal recessive - - <5y - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000409226 RNA RT-PCR;SEQ blood - RDH12 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     

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     

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Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
14 Parent #1 +?/. - likely pathogenic g.68191267C>T g.67724550C>T RDH12 c.146 C>T, Thr49Met - RDH12_000003 heterozygous PubMed: Fahim 2019 - - Unknown ? - - - - LOVD RDH12 - - - - - NM_152443.2:c.146C>T - r.(?) p.(Thr49Met) - - - - - - - - - - - - - -
14 Parent #2 +?/. - likely pathogenic g.68191305C>T g.67724588C>T RDH12 c.184C>T, Arg62X - RDH12_000028 heterozygous PubMed: Fahim 2019 - - Unknown ? - - - - LOVD RDH12 - - - - - NM_152443.2:c.184C>T - r.(?) p.(Arg62*) - - - - - - - - - - - - - -
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