All individuals with variants in gene HPSE2

26 entries on 1 page. Showing entries 1 - 26.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00245672 - PubMed: Aydogdu 2010 Twin brother of IV:2 M - - Turkish - 0 - - UFS-1 - 1 1 -
00245673 - PubMed: Aydogdu 2010 Twin brother of IV:1 M - - Turkish - 0 - - UFS-1 - 1 1 -
00245674 - PubMed: Aydogdu 2010 Parents of IV:1and IV:2. Consanguineous family ? - - Turkish - 0 - - Healthy/Control - 1 2 -
00245675 - - see variant's remarks M - - French - 0 - - UFS-1 - 2 1 -
00245676 - - see variant's remarks M - - French - 0 - - UFS-1 - 2 1 -
00245677 - PubMed: Garcia-Minaur 2001 - M - - Spanish - 0 - - UFS-1 - 1 1 -
00245678 - PubMed: Garcia-Minaur 2001 Parents of IV:1. Consanguineous family ? - - Spanish - 0 - - Healthy/Control - 1 2 -
00245679 - PubMed: Aydogdu 2010 - ? - - Turkish - 0 - - UFS-1 - 1 5 -
00245680 - PubMed: Aydogdu 2010 Parents and healty sibs. Consanguineous family ? - - Turkish - 0 - - Healthy/Control - 1 14 -
00245681 - - Consanguineous family M - United Kingdom (Great Britain) Pakistani - 0 - - UFS-1 - 1 1 -
00245682 - - Sister of IV:4. Consanguineous family F - United Kingdom (Great Britain) Pakistani - 0 - - UFS-1 - 1 1 -
00245683 - - Brother of IV:4. Consanguineous family M - United Kingdom (Great Britain) Pakistani - 0 - - UFS-1 - 1 1 -
00245684 - - Parents and healty sibs of IV:4. Consanguineous family ? - United Kingdom (Great Britain) Pakistani - 0 - - Healthy/Control - 1 4 -
00245685 - PubMed: Derbent 2009 - F - - Turkish - 0 - - UFS-1 - 1 1 -
00245686 - PubMed: Derbent 2009 Parents of IV:1. Consanguineous family ? - - Turkish - 0 - - Healthy/Control - 1 2 -
00245687 - - - M - United States Irish - 0 - - UFS-1 - 1 1 -
00245688 - - - M - United States Irish - 0 - - UFS-1 - 1 1 -
00245689 - PubMed: Garcia-Minaur 2001 Sister of II:3. Strikingly different presentation F - - Irish - 0 - - UFS-1 - 1 1 -
00245690 - PubMed: Garcia-Minaur 2001 Sister of II:2. Strikingly different presentation F - - Irish - 0 - - UFS-1 - 1 1 -
00245691 - PubMed: Garcia-Minaur 2001 Parents of II:1 and II:2 ? - - Irish - 0 - - Healthy/Control - 1 2 -
00245692 - - - M - - Colombian - 0 - - UFS-1 - 1 1 -
00245693 - - - F - - Colombian - 0 - - UFS-1 - 1 1 -
00245694 - - - F - - Colombian - 0 - - UFS-1 - 1 1 -
00245695 - - Consanguineous family F - - Colombian - 0 - - UFS-1 - 1 1 -
00245696 - - Consanguineous family M - - Colombian - 0 - - UFS-1 - 1 1 -
00245697 - - - F - - Colombian - 0 - - UFS-1 - 1 1 -
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