Individual #00402889

ID_report Fam2PatIV3
Reference PubMed: Lin 2023, Journal: Lin 2023
Remarks 4-generation family, 1 affected, unaffected heterozygous parents/relatives
Gender F
Consanguinity yes
Country Egypt
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases NDD
Owner name Barbara Vona
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Barbara Vona
Date created 2022-02-13 17:10:45 +01:00 (CET)
Date last edited 2023-12-15 14:11:08 +01:00 (CET)


Phenotypes

neurodevelopmental disorder (NDD) (NDD)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Owner     
0000295642 - - - Familial, autosomal recessive - - - - Barbara Vona



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000404130 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     
1 Both (homozygous) ?/. ACMG VUS g.156020229C>A g.156050438C>A - - UBQLN4_000001 - PubMed: Lin 2023, Journal: Lin 2023 - - Germline ? - - - - Barbara Vona UBQLN4 - - - - - NM_020131.3:c.594G>T - r.(?) p.(Gln198His) - - - - - - - - - - - - - -
10 Both (homozygous) +?/. ACMG likely pathogenic (recessive) g.50954833G>A - - - OGDHL_000021 ACMG PM2_P, PP1_M, PP3_M, PS3_M PubMed: Lin 2023, Journal: Lin 2023 - - Germline - - - - - Barbara Vona OGDHL - - - - - NM_018245.2:c.1259C>T - r.(?) p.(Thr420Met) - - - - - - - - - - - - - -
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