Individual #00362262

ID_report Pat53
Reference PubMed: Bahena 2021
Remarks -
Gender F
Consanguinity yes
Country Iran
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases deafness, retinal degeneration
Owner name Barbara Vona
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Barbara Vona
Date created 2021-04-18 12:18:58 +02:00 (CEST)
Date last edited 2022-04-20 17:15:22 +02:00 (CEST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000363491 DNA SEQ-NG-I - Exome sequencing - 2 Barbara Vona



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     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
12 Both (homozygous) ?/. ACMG VUS g.1949897G>A - - - CACNA2D4_000082 - PubMed: Bahena 2021 - - Germline yes - - - - Barbara Vona CACNA2D4 - - - - 26i NM_172364.4:c.2551+8C>T - r.(=) p.(=) - - - - - - - - - - - - - -
17 Unknown ?/. ACMG VUS g.1554990G>T - - - PRPF8_000109 - PubMed: Bahena 2021 - - Unknown ? - - - - Barbara Vona PRPF8 - - - - 40 NM_006445.3:c.6462C>A - r.(?) p.(His2154Gln) - - - - - - - - - - - - - -
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