Individual #00241615

ID_report -
Reference M. Losekoot
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases MODY
Owner name Monique Losekoot
Database submission license No license selected
Created by Monique Losekoot


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     
0000181598 maturity onset diabetes of the young MODY-3 - Unknown - - - - Monique Losekoot



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000242726 DNA SEQ - - HNF1A 8 Monique Losekoot



Variants

8 entries on 1 page. Showing entries 1 - 8.
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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 -/- - benign g.121416412_121416418dup g.120978609_120978615dup c.160_1-154dupTGGGGGT - HNF1A_000023 - M. Losekoot - - Germline - - - 0 - Monique Losekoot HNF1A - - - - 1 NM_000545.5:c.-160_-154dup - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
12 Unknown -/- - benign g.121416622C>G g.120978819C>G - - HNF1A_000126 - M. Losekoot - - Germline - - - 0 - Monique Losekoot HNF1A - - - - 1 NM_000545.5:c.51C>G - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
12 Unknown +/+ - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot HNF1A - - - - 1 NM_000545.5:c.293C>T - r.(?) p.(Ala98Val) - - - - - - - - - - - - - - - - - - -
12 Unknown ?/? - VUS g.121426676C>G g.120988873C>G - - HNF1A_000107 - M. Losekoot - - Germline - - - 0 - Monique Losekoot HNF1A - - - - 2 NM_000545.5:c.367C>G - r.(?) p.(Leu123Val) - - - - - - - - - - - - - - - - - - -
12 Unknown -/- - benign g.121431272T>A g.120993469T>A - - HNF1A_000131 - M. Losekoot - - Germline - - - 0 - Monique Losekoot HNF1A - - - - 2i NM_000545.5:c.527-51T>A - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
12 Unknown -/- - benign g.121432117G>C g.120994314G>C - - HNF1A_000157 - M. Losekoot - - Germline - - - 0 - Monique Losekoot HNF1A - - - - 4 NM_000545.5:c.864G>C - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
12 Unknown -/- - benign g.121435475G>A g.120997672G>A - - HNF1A_000052 - M. Losekoot - - Germline - - - 0 - Monique Losekoot HNF1A - - - - 7i NM_000545.5:c.1501+7G>A - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
12 Unknown -/- - benign g.121438844T>C g.121001041T>C - - HNF1A_000081 - M. Losekoot - - Germline - - - 0 - Monique Losekoot HNF1A - - - - 9i NM_000545.5:c.1769-24T>C - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
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