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.

21 entries on 1 page. Showing entries 1 - 21.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Re-site     

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Template     

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Disease     

ID_report     

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Owner     
+?/? 3 c.538T>C r.(?) p.(Ser180Pro) - Parent #1 ACMG VUS g.216591969A>G g.216418627A>G - - USH2A_000143 Heterozygous PubMed: Nakanishi 2009, USMA missense analysis, missense variant in MSV3d - - Germline - 0/270 controls - - - DNA SEQ - - USH2 - PubMed: Nakanishi 2009 Proband F - Japan - - - - - 1 Anne-Françoise Roux
+?/? 3 c.538T>C r.(?) p.(Ser180Pro) - Parent #1 ACMG VUS g.216591969A>G g.216418627A>G - - USH2A_000143 Heterozygous; Mutation PubMed: Huang 2013, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Huang 2013 Proband F - China - - - - - 1 Anne-Françoise Roux
+?/? 3 c.538T>C r.(?) p.(Ser180Pro) - Parent #1 ACMG VUS g.216591969A>G g.216418627A>G - - USH2A_000143 Heterozygous; Mutation PubMed: Huang 2013, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Huang 2013 Relative F - China - - - - - 1 Anne-Françoise Roux
+?/. - c.538T>C r.(?) p.(Ser180Pro) - Unknown - likely pathogenic g.216591969A>G g.216418627A>G - - USH2A_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.538T>C r.(?) p.(Ser180Pro) - Parent #1 ACMG pathogenic (recessive) g.216591969A>G g.216418627A>G - - USH2A_000143 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ-NG - - HL 19765 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+/. 3 c.538T>C r.(?) p.(Ser180Pro) - Unknown ACMG pathogenic g.216591969A>G g.216418627A>G NM_206933.2:c.538T>C, NP_996816.2:p.(Ser180Pro), NC_000001.10:g.216591969A>G - USH2A_000143 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - exome sequencing retinal disease 2016092601 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+?/. 3 c.538T>C r.(?) p.(Ser180Pro) - Parent #1 - likely pathogenic g.216591969A>G g.216418627A>G USH2A:NM_206933:exon3:c.538T>C:p.S180P - USH2A_000143 compound heterozygous PubMed: Chen 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease F23-II-5 PubMed: Chen 2020 - M - Taiwan - - - - - 1 LOVD
+?/. 3 c.538T>C r.(?) p.(Ser180Pro) - Unknown ACMG likely pathogenic g.216591969A>G g.216418627A>G USH2A c.538T>C, p.(Ser180Pro) - USH2A_000143 heterozygous PubMed: Dan 2020 - - Germline ? - - - - DNA SEQ-NG blood Panel 1 containing 70 genes retinal disease 1 PubMed: Dan 2020 - M no China - - - - - 1 LOVD
+?/. 3 c.538T>C r.(?) p.(Ser180Pro) - Unknown - likely pathogenic (recessive) g.216591969A>G - c.538T>C - USH2A_000143 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - WES retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. - c.538T>C r.(?) p.(Ser180Pro) - Unknown ACMG likely pathogenic g.216591969A>G g.216418627A>G USH2A c.538T>C(;)2802T>G, V1: c.538T>C, (p.Ser180Pro) - USH2A_000143 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F080 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. 3 c.538T>C r.(?) p.(Ser180Pro) - Parent #2 ACMG pathogenic g.216591969A>G g.216418627A>G USH2A c.538T>C, p.Ser180Pro - USH2A_000143 heterozygous PubMed: Meng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood hereditary eye disease enrichment panel (HEDEP) - 441 genes covering 14 Usher genes USH 12 PubMed: Meng 2020 - F - China - - - - - 1 LOVD
+/. 3 c.538T>C r.(?) p.(Ser180Pro) - Parent #2 ACMG pathogenic g.216591969A>G g.216418627A>G USH2A c.538T>C, p.Ser180Pro - USH2A_000143 heterozygous PubMed: Meng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood hereditary eye disease enrichment panel (HEDEP) - 441 genes covering 14 Usher genes USH 32 PubMed: Meng 2020 - F - China - - - - - 1 LOVD
+/. - c.538T>C r.(?) p.(Ser180Pro) - Parent #1 - pathogenic g.216591969A>G g.216418627A>G USH2A c.538T>C, p.Ser180Pro - USH2A_000143 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH R017070069 PubMed: Gao 2021 - F - China - - - - - 1 LOVD
+/. - c.538T>C r.(?) p.(Ser180Pro) - Parent #2 - pathogenic g.216591969A>G g.216418627A>G USH2A c.538T>C, p.Ser180Pro - USH2A_000143 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH RD17125000 PubMed: Gao 2021 - F - China - - - - - 1 LOVD
+/. - c.538T>C r.(?) p.(Ser180Pro) - Parent #2 - pathogenic g.216591969A>G g.216418627A>G USH2A c.538T>C, p.Ser180Pro - USH2A_000143 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease RD1808135 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. - c.538T>C r.(?) p.(Ser180Pro) - Parent #2 - pathogenic g.216591969A>G g.216418627A>G USH2A c.538T>C, p.Ser180Pro - USH2A_000143 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH RD19022786 PubMed: Gao 2021 - F - China - - - - - 1 LOVD
+/. 3 c.538T>C r.(?) p.(Ser180Pro) - Parent #1 ACMG pathogenic g.216591969A>G g.216418627A>G USH2A c.538T>C, p.S180P - USH2A_000143 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 42646934 PubMed: Zhu 2021 family 245, patient 42646934 M - China - - - - - 1 LOVD
+/. 3 c.538T>C r.(?) p.(Ser180Pro) - Parent #1 ACMG pathogenic g.216591969A>G g.216418627A>G USH2A c.538T>C, p.S180P - USH2A_000143 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 44240753 PubMed: Zhu 2021 family 226, patient 44240753 M - China - - - - - 1 LOVD
+/. 3 c.538T>C r.(?) p.(Ser180Pro) - Parent #2 ACMG pathogenic g.216591969A>G g.216418627A>G USH2A c.538T>C, p.S180P - USH2A_000143 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease AXLM_19 PubMed: Zhu 2021 family 80, patient AXLM_19 M - China - - - - - 1 LOVD
+?/. - c.538T>C r.(?) p.(Ser180Pro) - Unknown - likely pathogenic g.216591969A>G g.216418627A>G USH2A c.538T>C(;)2802T>G; p.(Ser180Pro) - USH2A_000143 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0.000330; GnomAD_exome_East: 0.000109; GnomAD_All: 0.00000797 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F080 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+/. - c.538T>C r.(?) p.(Ser180Pro) - Unknown ACMG pathogenic g.216591969A>G g.216418627A>G - - USH2A_000143 ACMG GN005 criteria: PM2_P PM3_VS PP1_P PP3_P PubMed: Gao, F. J. et al., 2021; PubMed: Kuang, L. et al., 2020; PubMed: Sun, T. et al., 2018; PubMed: Meng, X. et al., 2021; PubMed: Dan, H. et al., 2020; PubMed: Huang, X. F. et al., 2013 - rs1171672823 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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