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.

28 entries on 1 page. Showing entries 1 - 28.
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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     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.187C>T r.(?) p.(Arg63Ter) - Unknown - pathogenic g.216595492G>A g.216422150G>A - - USH2A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.187C>T r.(?) p.(Arg63*) - Parent #1 - pathogenic g.216595492G>A g.216422150G>A - - USH2A_000017 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - - Germline - - +AcuI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 2 c.187C>T r.(?) p.(Arg63*) - Unknown - pathogenic g.216595492G>A g.216422150G>A - - USH2A_000017 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - - Germline - - +AcuI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 2 c.187C>T r.(?) p.(Arg63*) - Parent #2 - pathogenic g.216595492G>A g.216422150G>A - - USH2A_000017 Heterozygous PubMed: Dreyer 2000 - - Germline - - +AcuI - - DNA SEQ - - USH2 - PubMed: Dreyer 2000 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 2 c.187C>T r.(?) p.(Arg63*) - Parent #2 - pathogenic g.216595492G>A g.216422150G>A - - USH2A_000017 Heterozygous PubMed: Bernal 2003 - - Germline - - +AcuI - - DNA SEQ - - RPar - PubMed: Bernal 2003 Proband F - Spain - - - - - 1 Anne-Françoise Roux
+/+ 2 c.187C>T r.(?) p.(Arg63*) - Parent #2 - pathogenic g.216595492G>A g.216422150G>A - - USH2A_000017 Heterozygous PubMed: Bernal 2003 - - Germline - - +AcuI - - DNA SEQ - - RPar - PubMed: Bernal 2003 Relative F - Spain - - - - - 1 Anne-Françoise Roux
+/+ 2 c.187C>T r.(?) p.(Arg63*) - Parent #2 - pathogenic g.216595492G>A g.216422150G>A - - USH2A_000017 Heterozygous PubMed: Bernal 2003 - - Germline - - +AcuI - - DNA SEQ - - RPar - PubMed: Bernal 2003 Relative F - Spain - - - - - 1 Anne-Françoise Roux
+/+ 2 c.187C>T r.(?) p.(Arg63*) - Parent #1 - pathogenic g.216595492G>A g.216422150G>A - - USH2A_000017 Heterozygous; Mutation PubMed: Vozzi 2011 - - Germline - - +AcuI - - DNA PE, SEQ - APEX USH2 - PubMed: Vozzi 2011 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/+ 2 c.187C>T r.(?) p.(Arg63*) - Unknown - pathogenic g.216595492G>A g.216422150G>A - - USH2A_000017 Heterozygous; Mutation PubMed: Vozzi 2011 - - Germline - - +AcuI - - DNA PE, SEQ - APEX USH2 - PubMed: Vozzi 2011 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/+ 2 c.187C>T r.(?) p.(Arg63*) - Parent #1 - pathogenic g.216595492G>A g.216422150G>A - - USH2A_000017 Heterozygous PubMed: Sodi 2014 - - Germline - - +AcuI - - DNA SEQ - - USH2 - PubMed: Sodi 2014 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/+ 2 c.187C>T r.(?) p.(Arg63*) - Unknown - pathogenic g.216595492G>A g.216422150G>A - - USH2A_000017 Heterozygous; pathogenic mutation PubMed: Pierrottet 2014 - - Germline - - +AcuI - - DNA SEQ - - USH2 P50 PubMed: Pierrottet 2014 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+?/. - c.187C>T r.(?) p.(Arg63*) - Parent #2 - likely pathogenic g.216595492G>A g.216422150G>A - - USH2A_000017 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 578 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
+/. 2 c.187C>T r.(?) p.(Arg63*) - Parent #2 - pathogenic (recessive) g.216595492G>A g.216422150G>A - - USH2A_000017 possible duplicate PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 - - Germline - - - - - DNA SEQ - - retinal disease USH2-43 (D10) PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 family, 2 affeted M no Denmark - - - - - 2 Anne-Françoise Roux
+/. 2 c.187C>T r.(?) p.(Arg63*) - Parent #2 - pathogenic (recessive) g.216595492G>A g.216422150G>A - - USH2A_000017 possible duplicate PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 - - Germline - - - - - DNA SEQ - - retinal disease USH2-43a (D06) PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 - M no Denmark - - - - - 1 Anne-Françoise Roux
+?/. - c.187C>T r.(?) p.(Arg63*) - Maternal (confirmed) - likely pathogenic g.216595492G>A g.216422150G>A - - USH2A_000017 - PubMed: Perez-Carro 2018 - - Germline yes - - - - DNA arraySNP blood - retinal disease RP-0391 PubMed: Perez-Carro 2018 family RP-0391 F yes Spain - - - - - 1 LOVD
+?/. - c.187C>T r.(?) p.(Arg63*) - Maternal (confirmed) - likely pathogenic g.216595492G>A g.216422150G>A - - USH2A_000017 - PubMed: Perez-Carro 2018 - - Germline yes - - - - DNA arraySNP blood - retinal disease RP-0391_II:1 PubMed: Perez-Carro 2018 family RP-0391 F yes Spain - - - - - 1 LOVD
+?/. - c.187C>T r.(?) p.(Arg63*) - Maternal (confirmed) - likely pathogenic g.216595492G>A g.216422150G>A - - USH2A_000017 - PubMed: Perez-Carro 2018 - - Germline yes - - - - DNA arraySNP blood - retinal disease RP-0391_II:3 PubMed: Perez-Carro 2018 family RP-0391 F yes Spain - - - - - 1 LOVD
+?/. - c.187C>T r.(?) p.(Arg63*) - Unknown - likely pathogenic g.216595492G>A g.216422150G>A c.187C>T p.(Arg63*), c.4645C>T p.(Arg1549*) - USH2A_000017 - PubMed: Hagag 2020 - - Germline/De novo (untested) ? - - - - DNA ? - - retinal disease Subject 039 PubMed: Hagag 2020 - ? - - - - - - - 1 LOVD
+/. - c.187C>T r.(?) p.(Arg63Ter) - Unknown ACMG pathogenic g.216595492G>A - - - USH2A_000017 - PubMed: Mansard et al, 2021 - rs781223647 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+/. 2 c.187C>T r.(?) p.(Arg63*) - Unknown - pathogenic (recessive) g.216595492G>A - c.187C>T - USH2A_000017 - PubMed: Colombo-2020 - rs781223647 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+/. 2 c.187C>T r.(?) p.(Arg63*) - Unknown - pathogenic g.216595492G>A - c.187C>T - USH2A_000017 - PubMed: Colombo-2020 - rs781223647 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+/. - c.187C>T r.(?) p.(Arg63*) - Parent #1 - pathogenic g.216595492G>A g.216422150G>A USH2A c.187C>T, p.(Arg63*) - USH2A_000017 - PubMed: Steele-Stallard 2013 - - Germline yes - - - - DNA, RNA MLPA, arrayCGH, PCR, RT-PCR, SEQ - RNA isolated from nasal epithelial cells retinal disease 657_II:1 PubMed: Steele-Stallard 2013 proband of family 657_II:1 M - United Kingdom (Great Britain) white - - - - 1 LOVD
+/. - c.187C>T r.(?) p.(Arg63*) - Parent #1 - pathogenic g.216595492G>A g.216422150G>A USH2A c.187C>T, p.(Arg63*) - USH2A_000017 - PubMed: Steele-Stallard 2013 - - Germline yes - - - - DNA SEQ - - retinal disease 657_II:2 PubMed: Steele-Stallard 2013 sister of proband, family 657_II:2 F - United Kingdom (Great Britain) white - - - - 1 LOVD
+?/. - c.187C>T r.(?) p.(Arg63*) - Unknown - likely pathogenic g.216595492G>A g.216422150G>A USH2A c.187C>T, p.R63* - USH2A_000017 heterozygous PubMed: Ng 2019 - - Germline yes - - - - DNA SEQ-NG-I blood Whole exome sequencing USH F1-II:5 PubMed: Ng 2019 proband; pedigree patient numbers differ from table numbers F - China - - - - - 1 LOVD
+?/. - c.187C>T r.(?) p.(Arg63*) - Unknown - likely pathogenic g.216595492G>A g.216422150G>A USH2A c.187C>T, p.R63* - USH2A_000017 heterozygous PubMed: Ng 2019 - - Germline yes - - - - DNA SEQ-NG-I blood Whole exome sequencing USH F1-II:1 PubMed: Ng 2019 proband's eldest sister (1) F - China - - - - - 1 LOVD
+?/. - c.187C>T r.(?) p.(Arg63*) - Unknown - likely pathogenic g.216595492G>A g.216422150G>A USH2A c.187C>T, p.R63* - USH2A_000017 heterozygous PubMed: Ng 2019 - - Germline yes - - - - DNA SEQ-NG-I blood Whole exome sequencing USH F1-II:3 PubMed: Ng 2019 proband's older sister (3) F - China - - - - - 1 LOVD
+/. 2 c.187C>T r.(?) p.(Arg63*) - Parent #2 ACMG pathogenic g.216595492G>A g.216422150G>A USH2A c.187C>T, p.R63* - USH2A_000017 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 43151024 PubMed: Zhu 2021 family 170, patient 43151024 M - China - - - - - 1 LOVD
+/. - c.187C>T r.(?) p.(Arg63Ter) - Unknown ACMG pathogenic g.216595492G>A g.216422150G>A - - USH2A_000017 ACMG GN005 criteria: PVS1_VS PM2_P PM3_S, PP1_M PubMed: Le Quesne Stabej, P. et al., 2012; PubMed: Perez-Carro, R. et al., 2018; PubMed: Colombo, L. et al., 2022; PubMed: Mansard, L. et al., 2021; PubMed: Colombo, L. et al., 2021 - rs781223647 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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