All individuals with variants in gene HPS3

19 entries on 1 page. Showing entries 1 - 19.
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AscendingIndividual ID     

ID_report     

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Gender     

Consanguinity     

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Population     

Age at death     

VIP     

Data_av     

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Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00019479 - PubMed: Anikster 2001 2-generation family, 5 affecteds (2F, 3M), unaffected heterozygous carrier parents F;M yes Puerto Rico - - 0 - - HPS see paper; ... 1 5 William (Bill) Oetting
00019480 - PubMed: Huizing 2001 - F no Italy;Puerto Rico - - 0 - - HPS see paper; ... 1 1 William (Bill) Oetting
00019481 - PubMed: Huizing 2001 - F - United States Jewish-Ashkenazi - 0 - - HPS see paper; ... 1 1 William (Bill) Oetting
00019482 - PubMed: Huizing 2001 - F - United States Jewish-Ashkenazi - 0 - - HPS see paper; ... 2 1 William (Bill) Oetting
00019483 - PubMed: Huizing 2001 - F no Germany;Ireland Jewish-Ashkenazi - 0 - - HPS, JBS;11q see paper; ... 2 1 William (Bill) Oetting
00019484 - PubMed: Huizing 2001 - M - Germany;Switzerland - - 0 - - HPS see paper; ... 2 1 William (Bill) Oetting
00019485 - PubMed: Huizing 2001 - M - Ireland - - 0 - - HPS see paper; ... 1 1 William (Bill) Oetting
00081096 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - HPS-3 Hermansky-Pudlak syndrome 3 (OMIM:614072) 1 1 Daniel Trujillano
00090119 - PubMed: Anikster 2001 3-generation family, 5 affecteds (3F, 2M), unaffected heterozygous carrier parents F;M - Puerto Rico - - 0 - - HPS see paper; … 1 5 William (Bill) Oetting
00090120 - PubMed: Anikster 2001 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - Puerto Rico - - 0 - - HPS see paper; … 1 2 William (Bill) Oetting
00090121 - PubMed: Anikster 2001 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Puerto Rico - - 0 - - HPS see paper; … 1 1 William (Bill) Oetting
00090122 - PubMed: Anikster 2001 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Puerto Rico - - 0 - - HPS see paper; … 1 1 William (Bill) Oetting
00090123 - PubMed: Anikster 2001 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Puerto Rico - - 0 - - HPS see paper; … 1 1 William (Bill) Oetting
00090124 - PubMed: Huizing 2001 - F - United States Jewish-Ashkenazi - 0 - - HPS see paper; … 1 1 William (Bill) Oetting
00090125 - PubMed: Huizing 2001 - F - United States Jewish-Ashkenazi - 0 - - HPS see paper; … 1 1 William (Bill) Oetting
00293243 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 5 Mohammed Faruq
00293244 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 10 Mohammed Faruq
00293245 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 7 Mohammed Faruq
00302674 - - - M - (Germany) - - 0 - - ? Ocular albinism (HP:0001107) 1 1 IMGAG
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