Individual #00358970

ID_report Case71161
Reference PubMed: Tiwari 2016
Remarks see paper
Gender F
Consanguinity -
Country Switzerland
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     
0000254268 see paper; ... Leber Congenital Amaurosis - Familial, autosomal recessive - - - - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000360207 DNA SEQ-NG - WES - 7 LOVD



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     

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/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 Parent #1 +/. - pathogenic (recessive) g.197298028T>C g.197328898T>C - - CRB1_000357 - PubMed: Tiwari 2016 - - Germline - - - 0 - LOVD CRB1 - - - - - NM_201253.2:c.547T>C - r.(?) p.(Cys183Arg) - - - - - - - - - - - - - - - - - - -
1 Parent #2 +/. - pathogenic (recessive) g.197398589G>C g.197429459G>C - - CRB1_000362 - PubMed: Tiwari 2016 - - Germline - - - 0 - LOVD CRB1 - - - - - NM_201253.2:c.2687G>C - r.(?) p.(Cys896Ser) - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.215802242C>T g.215628900C>T - - USH2A_000253 - PubMed: Tiwari 2016 - - Germline - - - 0 - LOVD USH2A - - - - - NM_206933.2:c.15433G>A - r.(?) p.(Val5145Ile) - - - - - - - - - - - - - - - - - - -
8 Unknown ?/. - VUS g.100515183A>G g.99502955A>G - - VPS13B_000390 - PubMed: Tiwari 2016 - - Germline - - - 0 - LOVD VPS13B - - - - - NM_017890.3:c.4157+5A>G - r.spl p.? - - - - - - - - - - - - - - - - - - -
12 Unknown ?/. - VUS g.76740134T>C g.76346354T>C - - BBS10_000101 - PubMed: Tiwari 2016 - - Germline - - - 0 - LOVD BBS10 - - - - - NM_024685.3:c.1631A>G - r.(?) p.(Asn544Ser) - - - - - - - - - - - - - - - - - - -
14 Unknown ?/. - VUS g.21793031C>T g.21324872C>T - - RPGRIP1_000150 - PubMed: Tiwari 2016 - - Germline - - - 0 - LOVD RPGRIP1 - - - - - NM_020366.3:c.2017C>T - r.(?) p.(Gln673*) - - - - - - - - - - - - - - - - - - -
17 Unknown ?/. - VUS g.56290344T>C g.58212983T>C - - MKS1_000063 - PubMed: Tiwari 2016 - - Germline - - - 0 - LOVD MKS1 - - - - - NM_017777.3:c.857A>G - r.(?) p.(Asp286Gly) - - - - - - - - - - - - - - - - - - -
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