All individuals with variants in gene TTC19

11 entries on 1 page. Showing entries 1 - 11.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Population     

Age at death     

VIP     

Data_av     

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Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00037289 - - - - - Germany - - 0 - - ? clinical developmental delay, hypotonia 1 1 Andreas Laner
00037290 - - - - - Germany - - 0 - - ? clinical developmental delay, hypotonia 1 1 Andreas Laner
00037291 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037292 - - - - - Germany - - 0 - - ? clinical developmental delay, hypotonia 1 1 Andreas Laner
00117528 21278747-Fam1Pat4 PubMed: Ghezzi 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Italy - - 0 - - MC3DN-2 see paper; mitochondrial complex III deficiency, … 1 1 Johan den Dunnen
00117529 21278747-Fam1Pat1 PubMed: Ghezzi 2011 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents F no Italy - - 0 - - MC3DN-2 see paper; mitochondrial complex III deficiency, … 1 2 Johan den Dunnen
00117530 21278747-Fam1Pat2 PubMed: Ghezzi 2011 brother Pat1 M no Italy - - 0 - - MC3DN-2 see paper; mitochondrial complex III deficiency, … 1 1 Johan den Dunnen
00117531 21278747-Fam1Pat3 PubMed: Ghezzi 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Italy - - 0 - - MC3DN-2 see paper; mitochondrial complex III deficiency, … 1 1 Johan den Dunnen
00291638 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00291639 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 4 Mohammed Faruq
00291640 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 6 Mohammed Faruq
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