Individual #00169273

ID_report -
Reference PubMed: Bernal 2005
Remarks Relative
Gender F
Consanguinity -
Country Spain
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases USH-2
Owner name Anne-Françoise Roux
Database submission license No license selected
Created by Anne-Françoise Roux


Phenotypes

Usher syndrome, type II (USH-2) (USH-2)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000134134 Usher type II USH-2 - Unknown - - - - - Anne-Françoise Roux



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000170146 DNA SEQ - - - 2 Anne-Françoise Roux



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     

DNA/Legacy     

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 g.216420304_216420305del g.216246962_216246963del 2431_2432delAA - USH2A_000196 Heterozygous PubMed: Bernal 2005 - - Germline - - - 0 - Anne-Françoise Roux USH2A - - - - - 13 NM_206933.2:c.2431_2432del - r.(?) p.(Lys811Aspfs*11) Laminin EGF-like 6 (795-846) - - - - - - - - - - - - - - - - - - -
1 Parent #2 +/+ - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous PubMed: Bernal 2005 - - Germline - - +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; 0 - Anne-Françoise Roux USH2A - - - - - 2 NM_206933.2:c.100C>T - r.(?) p.(Arg34*) - - - - - - - - - - - - - - - - - - - -
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