Individual #00243086

ID_report -
Reference K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital
Remarks Diabetes diagnosed aged 21 years
Gender M
Consanguinity -
Country United Kingdom (Great Britain)
Population white
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases MODY
Owner name Kevin Colclough
Database submission license No license selected
Created by Kevin Colclough


Phenotypes

diabetes of the young, maturity-onset (MODY) (MODY)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Owner     
0000183069 maturity onset diabetes of the young MODY-3 - Unknown - - - - Kevin Colclough



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000244197 DNA SEQ - - HNF1A 1 Kevin Colclough



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     

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     
12 Unknown +/+ - pathogenic g.121426694C>A g.120988891C>A - - HNF1A_000257 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - 0 - Kevin Colclough HNF1A - - - - 2 NM_000545.5:c.385C>A - r.(?) p.(Pro129Thr) - - - - - - - - - - - - - - - - - - -
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