Individual #00466039

ID_report 314C
Reference -
Remarks -
Gender M
Consanguinity -
Country Hong Kong
Population Chinese
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases ADHD
Owner name Larry Baum
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Larry Baum
Date created 2025-07-13 07:33:16 +02:00 (CEST)
Date last edited 2025-07-21 10:40:50 +02:00 (CEST)


Phenotypes

attention deficit-hyperactivity disorder (ADHD) (ADHD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000351423 - - - Unknown 6y-15y - - - - Larry Baum



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000467692 DNA MS;SEQ-NG-I blood - - 6 Larry Baum
0000468017 DNA MS blood WGS - 1 Larry Baum



Variants

7 entries on 1 page. Showing entries 1 - 7.
Legend   How to query  

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     
2 Unknown ?/. ACMG VUS g.26951405G>A g.26728537G>A - - KCNK3_000012 - - - - De novo - 1/12 patients lwbaum - - Larry Baum KCNK3 - - - - - NM_002246.2:c.1154G>A - r.(?) p.(Arg385His) - - - - - - - - - - - - - -
2 Unknown ?/. ACMG VUS g.155637663G>A g.154781151G>A - - KCNJ3_000001 - - - - De novo - - - - - Larry Baum KCNJ3 - - - - - NM_002239.3:c.919+71332G>A - r.(?) p.(=) - - - - - - - - - - - - - -
4 Unknown ?/. ACMG VUS g.90962924_90962926del g.90041773_90041775del g.90962921CAGG>C - chr4_005004 - - - - De novo - 1/12 trios lwbaum - - Larry Baum - - - - - - - - - - - - - - - - - - - - - - -
8 Unknown ?/. ACMG VUS g.11395813T>C g.11538304T>C - - BLK_000059 - - - - De novo - - - - - Larry Baum BLK - - - - - NM_001715.2:c.-1-4920T>C - r.(?) p.(=) - - - - - - - - - - - - - -
12 Unknown ?/. ACMG VUS g.66279090T>C g.65885310T>C - - HMGA2_000037 - - - - De novo - - - - - Larry Baum HMGA2 - - - - - NM_003483.4:c.249+46741T>C - r.(?) p.(=) - - - - - - - - - - - - - -
15 Unknown ?/. ACMG VUS g.93777067G>A g.93233838G>A - - chr15_006375 - - - - De novo - - - - - Larry Baum - - - - - - - - - - - - - - - - - - - - - - -
16 Unknown ?/. ACMG VUS g.87351156C>T g.87317550C>T - - chr16_007466 in gene RP11-178L8.4 or RP11-178L8.7 - - - De novo - 1/12 - - - Larry Baum - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.