All individuals with variants in gene SLC9A7

10 entries on 1 page. Showing entries 1 - 10.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00172944 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00172945 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00172946 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 93 Lucy Raymond
00172947 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00301509 Fam1PatVI1 PubMed: Khayat 20219, Journal: Khayat 2019 6-generation family, 4 affected (4M), unaffected carrier females M - Australia white >27y 0 - - ID high anterior hairline (HP:0009890); long face (HP:0000276); prominent nasolabial fold (HP:0005272); intellectual disability (HP:0001249) 1 4 Joaquin De La Torre Vela
00301510 Fam1PatV1 PubMed: Khayat 20219, Journal: Khayat 2019 - M yes Australia White >65y 0 - - ID high anterior hairline (HP:0009890); long face (HP:0000276); prominent nasolabial fold (HP:0005272); intellectual disability (HP:0001249) 1 1 Joaquin De La Torre Vela
00301511 Fam1PatV6 PubMed: Khayat 20219, Journal: Khayat 2019 - M yes Australia white >58y 0 - - ID high anterior hairline (HP:0009890); long face (HP:0000276); prominent nasolabial fold (HP:0005272); intellectual disability (HP:0001249) 1 1 Joaquin De La Torre Vela
00301512 Fam1PatV7 PubMed: Khayat 20219, Journal: Khayat 2019 - M yes Australia white >56y 0 - - ID high anterior hairline (HP:0009890); long face (HP:0000276); prominent nasolabial fold (HP:0005272); intellectual disability (HP:0001249) 1 1 Joaquin De La Torre Vela
00301688 Fam2PatIV2 PubMed: Khayat 20219, Journal: Khayat 2019 4-generation family, 2 affected males, 2 unaffected heterozygous carrier females M yes United States White >04y 0 - - ID Hypotonia (HP:0001290); Motor delay (HP:0001270); high anterior hairline (HP:0009890); long face (HP:0000276); prominent nasolabial fold (HP:0005272); intellectual disability (HP:0001249) 1 2 Joaquin De La Torre Vela
00301689 Fam2PatIII5 PubMed: Khayat 20219, Journal: Khayat 2019 - M yes United States white >36y 0 - - ID Hypotonia (HP:0001290); Motor delay (HP:0001270); high anterior hairline (HP:0009890); long face (HP:0000276); prominent nasolabial fold (HP:0005272); intellectual disability (HP:0001249) 1 1 Joaquin De La Torre Vela
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