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.

22 entries on 1 page. Showing entries 1 - 22.
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Effect     

Exon     

AscendingDNA change (cDNA)     

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Owner     
-?/? 71 c.15427C>T r.(?) p.(Arg5143Cys) Cytoplasmic (5064-5202) Parent #1 ACMG likely benign g.215802248G>A g.215628906G>A - - USH2A_000786 Heterozygous; Mutation PubMed: Huang 2013, USMA missense analysis, missense variant in MSV3d - rs145771342 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Huang 2013 Proband F - China - - - - - 1 Anne-Françoise Roux
?/. - c.15427C>T r.(?) p.(Arg5143Cys) - Unknown - VUS g.215802248G>A g.215628906G>A - - USH2A_000786 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs145771342 Germline - 6/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 6 Yoshito Koyanagi
-/. - c.15427C>T r.(?) p.(Arg5143Cys) - Unknown - benign g.215802248G>A g.215628906G>A USH2A(NM_206933.2):c.15427C>T (p.R5143C), USH2A(NM_206933.4):c.15427C>T (p.R5143C) - USH2A_000786 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.15427C>T r.(?) p.(Arg5143Cys) - Unknown - VUS g.215802248G>A g.215628906G>A USH2A(NM_206933.2):c.15427C>T (p.R5143C), USH2A(NM_206933.4):c.15427C>T (p.R5143C) - USH2A_000786 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.15427C>T r.(?) p.(Arg5143Cys) - Unknown - benign g.215802248G>A g.215628906G>A - - USH2A_000786 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.019 - - - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.15427C>T r.(?) p.(Arg5143Cys) - Parent #1 ACMG likely pathogenic (recessive) g.215802248G>A g.215628906G>A - - USH2A_000786 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL 19779 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+?/. - c.15427C>T r.(?) p.(Arg5143Cys) - Parent #2 ACMG likely pathogenic (recessive) g.215802248G>A g.215628906G>A - - USH2A_000786 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL 19832 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+?/. - c.15427C>T r.(?) p.(Arg5143Cys) - Unknown ACMG likely pathogenic (recessive) g.215802248G>A g.215628906G>A - - USH2A_000786 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ-NG - - HL 19439 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
?/. - c.15427C>T r.(?) p.(Arg5143Cys) - Unknown - VUS g.215802248G>A g.215628906G>A - - USH2A_000786 - PubMed: Vincent 2017 - - Germline - - - - - DNA SEQ-NG - 105-gene panel retinal disease 349 PubMed: Vincent 2017 patient, no family history F no Samoa - - - - - 1 LOVD
+?/. - c.15427C>T r.(?) p.(Arg5143Cys) - Unknown - likely pathogenic (recessive) g.215802248G>A g.215628906G>A - - USH2A_000786 - PubMed: Xu 2014 - rs145771342 Germline - 2/314 case chromosomes - - - DNA SEQ-NG-I - - retinal disease RP005 PubMed: Xu 2014 Younger brother affected as well M yes China China - - - - 1 Stéphanie Cornelis
+?/. - c.15427C>T r.(?) p.(Arg5143Cys) - Unknown - likely pathogenic (recessive) g.215802248G>A g.215628906G>A - - USH2A_000786 - PubMed: Xu 2014 - rs145771342 Germline - 2/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP122 PubMed: Xu 2014 family M - China - - - - - 1 LOVD
+?/. - c.15427C>T r.(?) p.(Arg5143Cys) - Parent #2 - likely pathogenic g.215802248G>A g.215628906G>A - - USH2A_000786 - - - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease W124-1 PubMed: Huang 2015 - M - China - - - - - 1 LOVD
?/. 71 c.15427C>T r.(?) p.(Arg5143Cys) - Unknown - VUS g.215802248G>A - c.15427C>T - USH2A_000786 unknown variant 2nd chromosome PubMed: Chen-2013 - rs145771342 Unknown - - - - - DNA SEQ blood - retinal disease - PubMed: Chen-2013 - - - China Chinese - - - - 1 LOVD
?/. 71 c.15427C>T r.(?) p.(Arg5143Cys) - Unknown - VUS g.215802248G>A - c.15427C>T - USH2A_000786 unknown variant 2nd chromosome PubMed: Chen-2013 - rs145771342 Unknown - - - - - DNA SEQ blood - retinal disease - PubMed: Chen-2013 - - - China Chinese - - - - 1 LOVD
+?/. 71 c.15427C>T r.(?) p.(Arg5143Cys) - Parent #1 - likely pathogenic (recessive) g.215802248G>A - c.15427C>T - USH2A_000786 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
-/. 71 c.15427C>T r.(?) p.(Arg5143Cys) - Parent #1 ACMG benign g.215802248G>A g.215628906G>A USH2A c.15427C>T, p.Arg5143Cys - USH2A_000786 heterozygous PubMed: Meng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood hereditary eye disease enrichment panel (HEDEP) - 441 genes covering 14 Usher genes retinal disease 57 PubMed: Meng 2020 - M - China - - - - - 1 LOVD
+?/. - c.15427C>T r.(?) p.(Arg5143Cys) - Parent #1 - likely pathogenic g.215802248G>A g.215628906G>A USH2A c.15427C>T, p.Arg5143Cys - USH2A_000786 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease RD18102620 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+?/. 71 c.15427C>T r.(?) p.(Arg5143Cys) - Parent #1 ACMG likely pathogenic g.215802248G>A g.215628906G>A USH2A c.15427C>T, p.R5143T - USH2A_000786 error in annotation, this mutation c.15427C>T causes p.(Arg5143Cys) and not p.(Arg5143Thr) PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease AXLM_21 PubMed: Zhu 2021 family 85, patient AXLM_21 M - China - - - - - 1 LOVD
+?/. 71 c.15427C>T r.(?) p.(Arg5143Cys) - Parent #2 ACMG likely pathogenic g.215802248G>A g.215628906G>A USH2A c.15427C>T, p.R5143T - USH2A_000786 error in annotation, this mutation c.15427C>T causes p.(Arg5143Cys) and not p.(Arg5143Thr) PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease AXLM_5 PubMed: Zhu 2021 family 19, patient AXLM_5 M - China - - - - - 1 LOVD
+?/. 71 c.15427C>T r.(?) p.(Arg5143Cys) - Parent #2 ACMG likely pathogenic g.215802248G>A g.215628906G>A USH2A c.15427C>T, p.R5143C - USH2A_000786 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease W124-1 PubMed: Zhu 2021 family 243, patient W124-1 M - China - - - - - 1 LOVD
+?/. 71 c.15427C>T r.(?) p.(Arg5143Cys) - Paternal (confirmed) ACMG likely pathogenic g.215802248G>A g.215628906G>A M7: USH2A c.15427C>T, R5143C - USH2A_000786 heterozygous PubMed: Chen 2020 - - Germline yes - - - - DNA SEQ-NG-I blood xGen Exome Research Panel retinal disease 4-II:1 PubMed: Chen 2020 - M - China - - - - - 1 LOVD
-/. - c.15427C>T r.(?) p.(Arg5143Cys) - Unknown ACMG benign g.215802248G>A g.215628906G>A - - USH2A_000786 ACMG GN005 criteria: BS1_P BS2_S BP4_P PubMed: Gao, F. J. et al., 2021; PubMed: Sun, T. et al., 2018; PubMed: Huang, X. F. et al., 2013; PubMed: Huang, X. F. et al., 2015 - rs145771342 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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