Individual #00170387

ID_report -
Reference PubMed: Chen 2014
Remarks Proband
Gender F
Consanguinity -
Country China
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases RPar
Owner name Anne-Françoise Roux
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anne-Françoise Roux
Date created 2014-08-20 14:20:40 +02:00 (CEST)
Date last edited N/A


Phenotypes

retinitis pigmentosa, autosomal recessive (RPar) (RPar)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000135248 - autosomal recessive retinitis pigmentosa - Familial, autosomal recessive - - - - - Anne-Françoise Roux



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000171260 DNA SEQ;SEQ-NG-S - - - 4 Anne-Françoise Roux



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     

IDbase Accession Number     

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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     
1 Paternal (inferred) +?/? ACMG VUS g.215972249C>A g.215798907C>A - - USH2A_000877 Homozygous; mutation PubMed: Chen 2014, USMA missense analysis, missense variant in MSV3d - - Germline - 0/300 controls - - - Anne-Françoise Roux USH2A - - - - 50 NM_206933.2:c.9958G>T - r.(?) p.(Gly3320Cys) Cystein rich (3192-3358) - - - - - - - - - - - - -
1 Maternal (inferred) +?/? ACMG VUS g.215972249C>A g.215798907C>A - - USH2A_000877 Homozygous; mutation PubMed: Chen 2014, USMA missense analysis, missense variant in MSV3d - - Germline - 0/300 controls - - - Anne-Françoise Roux USH2A - - - - 50 NM_206933.2:c.9958G>T - r.(?) p.(Gly3320Cys) Cystein rich (3192-3358) - - - - - - - - - - - - -
1 Paternal (inferred) +?/? ACMG VUS g.216052380G>C g.215879038G>C - - USH2A_000876 Homozygous; mutation PubMed: Chen 2014, USMA missense analysis, missense variant in MSV3d - - Germline - 0/300 controls - - - Anne-Françoise Roux USH2A - - - - 42 NM_206933.2:c.8284C>G - r.(?) p.(Pro2762Ala) Fibronectin type-III 14 (2724-2812) - - - - - - - - - - - - -
1 Maternal (inferred) +?/? ACMG VUS g.216052380G>C g.215879038G>C - - USH2A_000876 Homozygous; mutation PubMed: Chen 2014, USMA missense analysis, missense variant in MSV3d - - Germline - 0/300 controls - - - Anne-Françoise Roux USH2A - - - - 42 NM_206933.2:c.8284C>G - r.(?) p.(Pro2762Ala) Fibronectin type-III 14 (2724-2812) - - - - - - - - - - - - -
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