All individuals with variants in gene HEXA

9 entries on 1 page. Showing entries 1 - 9.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00000002 - PubMed: Bell 2011 - - - - - - - - - ? in vitro assay 2 1 Global Variome, with Curator vacancy
00000069 - PubMed: Bell 2011 - - - - - - - - - - - 2 1 Global Variome, with Curator vacancy
00073149 - ATX46 - M - France - - 0 - - SCAR - 1 1 Claire Guissart
00269920 - - - F - - - - 0 - - ? Ataxia (HP:0001251) 2 1 Andreas Laner
00291292 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 39 Mohammed Faruq
00291294 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 5 Mohammed Faruq
00295580 - - - F - - - - 0 - - ? Elevated serum creatine phosphokinase (HP:0003236); Abnormal levels of creatine kinase in blood (HP:0040081); Quadriceps muscle weakness (HP:0003731); Proximal muscle weakness in lower limbs (HP:0008994) 1 1 Andreas Laner
00304478 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00307741 UK10K_FINDWGA5411084 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - 0 - - ID - 2 1 Johan den Dunnen
Legend   How to query