Full data view for gene USH2A


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_206933.2 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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Effect     

Exon     

AscendingDNA change (cDNA)     

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+?/. 36 c.6937G>T r.(?) p.(Gly2313Cys) - Parent #2 - likely pathogenic (recessive) g.216143987C>A g.215970645C>A - - USH2A_001439 - PubMed: Sharon 2015, PubMed: Beryozkin 2015, PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - retinal disease MOL1234 PubMed: Sharon 2015, PubMed: Beryozkin 2015, PubMed: Sharon 2019 family M yes Israel Arab-Muslim - - - - 2 Dror Sharon
+/. - c.6937G>T r.(?) p.(Gly2313Cys) - Unknown - pathogenic g.216143987C>A g.215970645C>A - - USH2A_001439 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs199840367 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+?/. - c.6937G>T r.(?) p.(Gly2313Cys) - Unknown ACMG likely pathogenic g.216143987C>A - - - USH2A_001439 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.6937G>T r.(?) p.(Gly2313Cys) - Unknown - pathogenic g.216143987C>A g.215970645C>A - - USH2A_001439 - PubMed: Comander 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat26 PubMed: Comander 2017 proband F - United States - - - - - 1 Johan den Dunnen
+/. - c.6937G>T r.(?) p.(Gly2313Cys) - Parent #1 - pathogenic g.216143987C>A g.215970645C>A - - USH2A_001439 - PubMed: Bravo-Gil 2016 - - Germline - - - - - DNA SEQ-NG - 64-gene panel retinal disease 247 PubMed: Bravo-Gil 2016 see paper - - Spain - - - - - 1 LOVD
+?/. - c.6937G>T r.(?) p.(Gly2313Cys) - Parent #2 - likely pathogenic g.216143987C>A g.215970645C>A USH2A c.6937G>T, p.G231C - USH2A_001439 error in annotation: p.G231C should be p.G2313C, compound heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 127 PubMed: Jauregui 2020 - M - (United States) Hispanic - - - - 1 LOVD
+?/. - c.6937G>T r.(?) p.(Gly2313Cys) - Parent #2 - likely pathogenic g.216143987C>A g.215970645C>A USH2A c.6937G>T, p.G2313C - USH2A_001439 compound heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 134 PubMed: Jauregui 2020 - M - (United States) white - - - - 1 LOVD
+?/. - c.6937G>T r.(?) p.(Gly2313Cys) - Unknown - likely pathogenic g.216143987C>A - USH2A(NM_206933.2):c.6937G>T (p.G2313C), USH2A(NM_206933.4):c.6937G>T (p.(Gly2313Cys)) - USH2A_001439 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 36 c.6937G>T r.(?) p.(Gly2313Cys) - Parent #1 - pathogenic g.216143987C>A - c.6937G>T - USH2A_001439 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
?/. - c.6937G>T r.(?) p.(Gly2313Cys) - Unknown ACMG VUS g.216143987C>A g.215970645C>A - - USH2A_001439 ACMG GN005 criteria: PubMed: Ganapathi, M. et al., 2022; PubMed: Jauregui, R. et al., 2020; PubMed: Bravo-Gil, N. et al., 2016 - rs199840367 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.6937G>T r.(?) p.(Gly2313Cys) - Unknown - pathogenic g.216143987C>A - USH2A(NM_206933.2):c.6937G>T (p.G2313C), USH2A(NM_206933.4):c.6937G>T (p.(Gly2313Cys)) - USH2A_001439 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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