Individual #00016347

ID_report -
Reference PubMed: Jae 2013
Remarks 2-generation family, unaffected carrier parent
Gender ?
Consanguinity no
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel ID 00016343
Panel size 1
Diseases Healthy/Control
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2014-03-22 17:25:14 +01:00 (CET)
Date last edited 2023-02-23 09:56:23 +01:00 (CET)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016285 DNA SEQ - - POMK 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
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     
8 Parent #1 +/? - pathogenic g.42977740A>G g.43122597A>G - - POMK_000002 - PubMed: Jae 2013, OMIM:var0002 - - Unknown yes - - - - Johan den Dunnen POMK - - - - 5 NM_032237.4:c.773A>G - r.(?) p.(Gln258Arg) - - - - - - - - - - - - - -
Legend   How to query  


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