Individual #00105029

ID_report -
Reference PubMed: de Castro-Miró 2014
Remarks -
Gender M
Consanguinity ?
Country Spain
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases USH-2A
Owner name Marta de Castro-Miró


Phenotypes

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

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000082920 - - - Familial, autosomal recessive - - - - - Marta de Castro-Miró



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000105502 DNA SEQ-NG-I Whole blood - - 1 Marta de Castro-Miró



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

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     

ClassClinical     

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     

Protein level     
1 Paternal (confirmed) +/+ g.216420437del g.216247095delC - - USH2A_000001 - PubMed: de Castro-Miró 2014 - - Germline - - - 0 - Marta de Castro-Miró USH2A - - - - - 13 NM_206933.2:c.2299del - pathogenic r.(?) p.(Glu767Serfs*21) - - - - - - - - - - - - - - - - - - -
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