Individual #00462492

ID_report JATD4
Reference PubMed: Schmidts 2013
Remarks 2-generation family, 1 affected, unaffected heterozygous carrier parents
Gender F
Consanguinity -
Country Serbia
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases SRTD
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 2025-02-13 10:17:30 +01:00 (CET)
Date last edited N/A


Phenotypes

dysplasia, short-rib thoracic, with/without polydactyly (SRTD) (Jeune syndrome) (SRTD)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

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Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Owner     
0000349968 - SRTD9 - Familial, autosomal recessive - - - - Johan den Dunnen



Screenings


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Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000464125 DNA SEQ - - IFT140 2 Johan den Dunnen



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

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IDbase Accession Number     

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Exon     

DNA change (cDNA)     

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RNA change     

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Exon_old     

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Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
16 Paternal (confirmed) +/. - pathogenic (recessive) g.1621495C>T g.1571494C>T - - IFT140_000003 - PubMed: Schmidts 2013 - - Germline - - - - - Johan den Dunnen IFT140 - - - - - NM_014714.3:c.1565G>A - r.(?) p.(Gly522Glu) - - - - - - - - - - - - - -
16 Maternal (confirmed) +/. - pathogenic (recessive) g.1637962C>T g.1587961C>T 874C>T - IFT140_000002 - PubMed: Schmidts 2013 - - Germline - - - - - Johan den Dunnen IFT140 - - - - - NM_014714.3:c.874G>A - r.(?) p.(Val292Met) - - - - - - - - - - - - - -
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