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.

37 entries on 1 page. Showing entries 1 - 37.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

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Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

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VIP     

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Owner     
+?/? 42 c.8284C>G r.(?) p.(Pro2762Ala) Fibronectin type-III 14 (2724-2812) Paternal (inferred) ACMG VUS g.216052380G>C g.215879038G>C - - USH2A_000876 Homozygous; mutation PubMed: Chen 2014, USMA missense analysis, missense variant in MSV3d - - Germline - 0/300 controls - - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Chen 2014 Proband F - China - - - - - 1 Anne-Françoise Roux
+?/? 42 c.8284C>G r.(?) p.(Pro2762Ala) Fibronectin type-III 14 (2724-2812) Maternal (inferred) ACMG VUS g.216052380G>C g.215879038G>C - - USH2A_000876 Homozygous; mutation PubMed: Chen 2014, USMA missense analysis, missense variant in MSV3d - - Germline - 0/300 controls - - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Chen 2014 Proband F - China - - - - - 1 Anne-Françoise Roux
+?/. - c.8284C>G r.(?) p.(Pro2762Ala) - Unknown - likely pathogenic (recessive) g.216052380G>C - 1:216052380G>C ENST00000307340.3:c.8284C>G (Pro2762Ala) - USH2A_000876 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WES and WGS retinal disease G006007 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Asia-East - - - - 1 LOVD
+/. - c.8284C>G r.(?) p.(Pro2762Ala) - Parent #1 ACMG pathogenic (recessive) g.216052380G>C g.215879038G>C - - USH2A_000876 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ-NG - - HL 19860 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+/. - c.8284C>G r.(?) p.(Pro2762Ala) - Parent #1 ACMG pathogenic (recessive) g.216052380G>C g.215879038G>C - - USH2A_000876 - PubMed: Sun 2018 - - Germline - - - - - DNA MLPA, SEQ-NG - - HL 19541 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
?/. - c.8284C>G r.(?) p.(Pro2762Ala) - Unknown - VUS g.216052380G>C g.215879038G>C - - USH2A_000876 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP313 PubMed: Xu 2014 family F - China - - - - - 1 LOVD
+/. 42 c.8284C>G r.(?) p.(Pro2762Ala) - Unknown ACMG pathogenic g.216052380G>C g.215879038G>C NM_206933.2:c.8284C>G, NP_996816.2:p.(Pro2762Ala), NC_000001.10:g.216052380G>C - USH2A_000876 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016082406 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+?/. - c.8284C>G r.(?) p.(Pro2762Ala) - Unknown - likely pathogenic g.216052380G>C g.215879038G>C c.8284C>G, p.Pro2762Ala - USH2A_000876 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-625 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. 42 c.8284C>G r.(?) p.(Pro2762Ala) - Unknown - likely pathogenic (recessive) g.216052380G>C - c.8284C>G - USH2A_000876 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 42 c.8284C>G r.(?) p.(Pro2762Ala) - Parent #1 - likely pathogenic g.216052380G>C - c.8284C>G - USH2A_000876 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 42 c.8284C>G r.(?) p.(Pro2762Ala) - Unknown - likely pathogenic g.216052380G>C - c.8284C>G - USH2A_000876 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 42 c.8284C>G r.(?) p.(Pro2762Ala) - Unknown - likely pathogenic g.216052380G>C - c.8284C>G - USH2A_000876 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 42 c.8284C>G r.(?) p.(Pro2762Ala) - Unknown - likely pathogenic (recessive) g.216052380G>C - c.8284C>G - USH2A_000876 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
?/. 42 c.8284C>G r.(?) p.(Pro2762Ala) - Parent #1 ACMG VUS g.216052380G>C g.215879038G>C USH2A c.8284C>G, p.Pro2762Ala - USH2A_000876 heterozygous PubMed: Meng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood hereditary eye disease enrichment panel (HEDEP) - 441 genes covering 14 Usher genes retinal disease 62 PubMed: Meng 2020 - F - China - - - - - 1 LOVD
?/. 42 c.8284C>G r.(?) p.(Pro2762Ala) - Parent #2 ACMG VUS g.216052380G>C g.215879038G>C USH2A c.8284C>G, p.Pro2762Ala - USH2A_000876 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.8284C>G r.(?) p.(Pro2762Ala) - Parent #1 - pathogenic g.216052380G>C g.215879038G>C USH2A c.8284C>G, p.Pro2762Ala - USH2A_000876 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH R017060523 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. - c.8284C>G r.(?) p.(Pro2762Ala) - Parent #2 - pathogenic g.216052380G>C g.215879038G>C USH2A c.8284C>G, p.Pro2762Ala - USH2A_000876 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease RD18012919 PubMed: Gao 2021 - F - China - - - - - 1 LOVD
+/. - c.8284C>G r.(?) p.(Pro2762Ala) - Unknown - pathogenic g.216052380G>C g.215879038G>C USH2A c.8284C>G, p.Pro2762Ala - USH2A_000876 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease RD18113666 PubMed: Gao 2021 - F - China - - - - - 1 LOVD
+/. - c.8284C>G r.(?) p.(Pro2762Ala) - Parent #2 - pathogenic g.216052380G>C g.215879038G>C USH2A c.8284C>G, p.Pro2762Ala - USH2A_000876 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH RD18093274 PubMed: Gao 2021 - F - China - - - - - 1 LOVD
+/. - c.8284C>G r.(?) p.(Pro2762Ala) - Parent #2 - pathogenic g.216052380G>C g.215879038G>C USH2A c.8284C>G, p.Pro2762Ala - USH2A_000876 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH RD18100638 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. - c.8284C>G r.(?) p.(Pro2762Ala) - Parent #2 - pathogenic g.216052380G>C g.215879038G>C USH2A c.8284C>G, p.Pro2762Ala - USH2A_000876 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH RD18100639 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. 42 c.8284C>G r.(?) p.(Pro2762Ala) - Parent #1 ACMG pathogenic g.216052380G>C g.215879038G>C USH2A c.8284C>G, p.P2762A - USH2A_000876 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF_1499 PubMed: Zhu 2021 family 92, patient SRF_1499 F - China - - - - - 1 LOVD
+/. 42 c.8284C>G r.(?) p.(Pro2762Ala) - Parent #1 ACMG pathogenic g.216052380G>C g.215879038G>C USH2A c.8284C>G, p.P2762A - USH2A_000876 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF_1352 PubMed: Zhu 2021 family 15, patient SRF_1352 F - China - - - - - 1 LOVD
+/. 42 c.8284C>G r.(?) p.(Pro2762Ala) - Parent #1 ACMG pathogenic g.216052380G>C g.215879038G>C USH2A c.8284C>G, p.P2762A - USH2A_000876 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF1288 PubMed: Zhu 2021 family 44, patient SRF1288 M - China - - - - - 1 LOVD
+/. 42 c.8284C>G r.(?) p.(Pro2762Ala) - Parent #1 ACMG pathogenic g.216052380G>C g.215879038G>C USH2A c.8284C>G, p.P2762A - USH2A_000876 - 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
+/. 42 c.8284C>G r.(?) p.(Pro2762Ala) - Parent #1 ACMG pathogenic g.216052380G>C g.215879038G>C USH2A c.8284C>G, p.P2762A - USH2A_000876 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 17426176 PubMed: Zhu 2021 family 43, patient 17426176 F - China - - - - - 1 LOVD
+/. 42 c.8284C>G r.(?) p.(Pro2762Ala) - Parent #1 ACMG pathogenic g.216052380G>C g.215879038G>C USH2A c.8284C>G, p.P2762A - USH2A_000876 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF_1361 PubMed: Zhu 2021 family 68, patient SRF_1361 F - China - - - - - 1 LOVD
+/. 42 c.8284C>G r.(?) p.(Pro2762Ala) - Parent #1 ACMG pathogenic g.216052380G>C g.215879038G>C USH2A c.8284C>G, p.P2762A - USH2A_000876 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF498 PubMed: Zhu 2021 family 55, patient SRF498 F - China - - - - - 1 LOVD
+/. 42 c.8284C>G r.(?) p.(Pro2762Ala) - Parent #1 ACMG pathogenic g.216052380G>C g.215879038G>C USH2A c.8284C>G, p.P2762A - USH2A_000876 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 44503371 PubMed: Zhu 2021 family 73, patient 44503371 M - China - - - - - 1 LOVD
+/. 42 c.8284C>G r.(?) p.(Pro2762Ala) - Parent #1 ACMG pathogenic g.216052380G>C g.215879038G>C USH2A c.8284C>G, p.P2762A - USH2A_000876 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF1081 PubMed: Zhu 2021 family 246, patient SRF1081 M - China - - - - - 1 LOVD
+/. 42 c.8284C>G r.(?) p.(Pro2762Ala) - Parent #1 ACMG pathogenic g.216052380G>C g.215879038G>C USH2A c.8284C>G, p.P2762A - USH2A_000876 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 17426176_1 PubMed: Zhu 2021 family 43, patient 17426176_1 M - China - - - - - 1 LOVD
+/. 42 c.8284C>G r.(?) p.(Pro2762Ala) - Parent #2 ACMG pathogenic g.216052380G>C g.215879038G>C USH2A c.8284C>G, p.P2762A - USH2A_000876 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF1082 PubMed: Zhu 2021 family 1, patient SRF1082 M - China - - - - - 1 LOVD
+/. 42 c.8284C>G r.(?) p.(Pro2762Ala) - Parent #2 ACMG pathogenic g.216052380G>C g.215879038G>C USH2A c.8284C>G, p.P2762A - USH2A_000876 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF488 PubMed: Zhu 2021 family 67, patient SRF488 F - China - - - - - 1 LOVD
+/. 42 c.8284C>G r.(?) p.(Pro2762Ala) - Parent #2 ACMG pathogenic g.216052380G>C g.215879038G>C USH2A c.8284C>G, p.P2762A - USH2A_000876 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease AXLM_15 PubMed: Zhu 2021 family 64, patient AXLM_15 M - China - - - - - 1 LOVD
+/. 42 c.8284C>G r.(?) p.(Pro2762Ala) - Parent #2 ACMG pathogenic g.216052380G>C g.215879038G>C USH2A c.8284C>G, p.P2762A - USH2A_000876 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 17485144 PubMed: Zhu 2021 family 121, patient 17485144 M - China - - - - - 1 LOVD
+/. 42 c.8284C>G r.(?) p.(Pro2762Ala) - Parent #2 ACMG pathogenic g.216052380G>C g.215879038G>C USH2A c.8284C>G, p.P2762A - USH2A_000876 - 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
?/. - c.8284C>G r.(?) p.(Pro2762Ala) - Unknown ACMG VUS g.216052380G>C g.215879038G>C - - USH2A_000876 ACMG GN005 criteria: PM2_P PM3_M PP1_M PubMed: Gao, F. J. et al., 2021; PubMed: Sun, T. et al., 2018; PubMed: Meng, X. et al., 2021; PubMed: Chen, X. et al., 2014 - rs1188281491 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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