All individuals with variants in gene GJA3

13 entries on 1 page. Showing entries 1 - 13.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

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Disease     

Phenotype details     

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Panel size     

Owner     
00059949 - - - M - (China) - - 0 - - CTRCT congenital nuclear pulverulent and posterior polar cataract 1 1 Ke Yao
00065035 - PubMed: Gillespie 2014, Journal: Gillespie 2014 has affected mother, grandmother, great grandmother, 3 maternal aunts M no - - - 0 - - CCTRCT subcapsular, lamellar, y-sutural cataract 1 6 Johan den Dunnen
00065036 - PubMed: Gillespie 2014, Journal: Gillespie 2014 has affected mother M no - - - 0 - - CCTRCT nuclear and y-sutural cataract 1 2 Johan den Dunnen
00065037 - PubMed: Gillespie 2014, Journal: Gillespie 2014 3-generation family, affected son and father F yes - - - 0 - - CCTRCT nuclear, lamellar cataract; intermittent divergent squint 1 2 Johan den Dunnen
00065043 - PubMed: Gillespie 2014, Journal: Gillespie 2014 has affected brother F no - - - 0 - - CCTRCT cataract 1 2 Johan den Dunnen
00065047 - PubMed: Gillespie 2014, Journal: Gillespie 2014 has affected 2 has affected children F yes - - - 0 - - CCTRCT cataract 1 3 Johan den Dunnen
00065054 - PubMed: Gillespie 2014, Journal: Gillespie 2014 has affected daughter M no - - - 0 - - CCTRCT cataract; macrocephaly 1 2 Johan den Dunnen
00290844 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 37 Mohammed Faruq
00380427 WHP2 PubMed: Sun 2018 - F - China - - 0 - - ? - 1 1 LOVD
00380428 WHP3 PubMed: Sun 2018 - F - China - - 0 - - ? - 1 1 LOVD
00380448 WHP38 PubMed: Sun 2018 - F - China - - 0 - - ? - 1 1 LOVD
00385478 15019910 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - 0 - - retinal disease - 1 1 LOVD
00385516 17008393 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - 0 - - retinal disease - 1 1 LOVD
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