Individual #00003049

ID_report -
Reference PubMed: Yu 2001
Remarks 3-generation family, 5 unaffected carriers
Gender ?
Consanguinity no
Country Taiwan
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 4
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


Phenotypes

Healthy individual / control (Healthy/Control)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000001895 - - - - - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000002957 DNA SSCA - - GCNT2 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
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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     

Codon change     

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/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
6 Parent #1 +/? - pathogenic g.10626680G>A g.10626447G>A 1043G>A (Gly348Glu) - GCNT2_000001 - PubMed: Yu 2001, OMIM:var0001 - - Germline yes - - 0 - Johan den Dunnen GCNT2 - - - - - 5 NM_001491.2:c.1043G>A, NM_145649.4:c.1049G>A, NM_145655.3:c.1049G>A - r.(?) p.(Gly348Glu), p.(Gly350Glu) - - - - - - - - - - - - - - - - - - -
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