Individual #00107878

ID_report MSS1
Reference PubMed: Schmidts 2013
Remarks 2-generation family, 1 affected, unaffected heterozygous carrier parents
Gender F
Consanguinity -
Country Germany
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases SRTD9
Owner name Hannah Mitchison
Database submission license No license selected
Created by Hannah Mitchison
Date created 2012-10-30 13:25:00 +01:00 (CET)
Date last edited 2025-02-13 10:14:46 +01:00 (CET)


Phenotypes

dysplasia, short-rib thoracic, type 9, with/without polydactyly (SRTD9);syndrome, Mainzer-Saldino (MZSDS) (SRTD9;MZSDS)   Add phenotype for this disease

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Owner     
0000085632 - - - Familial, autosomal recessive - - - - - Hannah Mitchison



Screenings


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Owner     
0000108347 DNA SEQ-NG-R - - IFT140 2 Hannah Mitchison



Variants

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

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AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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Legacy protein change     

Protein level     
16 Paternal (confirmed) +/. - pathogenic (recessive) g.1568321A>G g.1518320A>G - - IFT140_000007 - PubMed: Schmidts 2013 - - Germline - - - - - Hannah Mitchison IFT140 - - - - 30 NM_014714.3:c.4078T>C - r.(?) p.(Cys1360Arg) - - - - - - - - - - - - - -
16 Maternal (confirmed) +/. - pathogenic (recessive) g.1607935C>A g.1557934C>A - - IFT140_000006 - PubMed: Schmidts 2013 - - Germline - - - - - Hannah Mitchison IFT140 - - - - 19i NM_014714.3:c.2399+1G>T - r.spl p.? - - - - - - - - - - - - - -
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