Individual #00208909

ID_report Proband-Fam
Reference PubMed: Sujjitjoon 2015
Remarks Proband and affected daughter.
Three sisters and one brother (all deceased) had diabetic retinopathy and nephropathy, with diabetes starting at ages 30 - 52.
Gender F
Consanguinity ?
Country Thailand
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 2
Diseases MODY-9
Owner name Jilani Jawaid
Database submission license No license selected
Created by Jilani Jawaid


Phenotypes

diabetes of the young, maturity-onset, type 9 (MODY-9) (MODY-9)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000165752 Diabetes mellitus (HP:0000819) - - Unknown 44y - - - - Jilani Jawaid



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000209964 DNA;RNA minigene;PCR;RFLP;RT-PCRq;SEQ blood - PAX4 1 Jilani Jawaid



Variants

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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     

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VIP     

Methylation     

Owner     

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Codon change     

IDbase Accession Number     

VariO/DNA     

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Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
7 Unknown +?/. - likely pathogenic g.127251731C>T g.127611677C>T PAX4 IVS7-1G>A - PAX4_000009 Variant not found in 344 non-diabetic control subjects. PubMed: Sujjitjoon 2015 - - Unknown yes - - 0 - Jilani Jawaid PAX4 - - - - - 7i NM_006193.2:c.748-1G>A - r.748_750del p.Gln250del - - - - - - - - - - - - - - - - - - - -
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