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.

18 entries on 1 page. Showing entries 1 - 18.
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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)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

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Disease     

ID_report     

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VIP     

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Panel size     

Owner     
+/+ 16 c.3187_3188del r.(?) p.(Gln1063Serfs*15) Fibronectin type-III 1 (1058-1143) Maternal (confirmed) - pathogenic g.216380744_216380745del g.216207402_216207403del 3187_3188delCA - USH2A_000216 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - - Germline - 0/878 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 16 c.3187_3188del r.(?) p.(Gln1063Serfs*15) Fibronectin type-III 1 (1058-1143) Paternal (inferred) - pathogenic g.216380744_216380745del g.216207402_216207403del 3187_3188delCA - USH2A_000216 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - - Germline - 0/878 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 16 c.3187_3188del r.(?) p.(Gln1063Serfs*15) Fibronectin type-III 1 (1058-1143) Parent #1 - pathogenic g.216380744_216380745del g.216207402_216207403del 3187_3188delCA - USH2A_000216 Heterozygous PubMed: Seyedahmadi 2004 - - Germline - - none - - DNA SEQ - - USH2 - PubMed: Seyedahmadi 2004 Proband - Genotype deduced from Sandberg et al., 2008 - - United States - - - - - 1 Anne-Françoise Roux
+/+ 16 c.3187_3188del r.(?) p.(Gln1063Serfs*15) Fibronectin type-III 1 (1058-1143) Parent #1 - pathogenic g.216380744_216380745del g.216207402_216207403del 3187_3188delCA - USH2A_000216 Heterozygous PubMed: Yan 2009 - - Germline - - none - - DNA SEQ - - USH2 - PubMed: Yan 2009 Proband M - United States - - - - - 1 Anne-Françoise Roux
+/. - c.3187_3188del r.(?) p.(Gln1063Serfs*15) - Both (homozygous) - pathogenic g.216380744_216380745del g.216207402_216207403del 3187_3188delCA - USH2A_000216 - PubMed: Carrigan 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease - PubMed: Carrigan 2016 - - - Ireland - - - - - 1 LOVD
+?/. - c.3187_3188del r.(?) p.(Gln1063Serfs*15) - Unknown - likely pathogenic g.216380744_216380745del g.216207402_216207403del 3187_3188delCA - USH2A_000216 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13012788 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. - c.3187_3188del r.(?) p.(Gln1063Serfs*15) - Unknown - likely pathogenic g.216380744_216380745del g.216207402_216207403del 3187_3188delCA - USH2A_000216 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12013066 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+/. - c.3187_3188del r.(?) p.(Gln1063SerfsTer15) - Parent #2 - pathogenic g.216380744_216380745del g.216207402_216207403del - - USH2A_000216 - PubMed: Zhao 2015 - - Germline - - - - - DNA SEQ-NG - 86-gene panel retinal disease Rp107 PubMed: Zhao 2015 family - - Northern Ireland - - - - - 1 LOVD
+/. 16 c.3187_3188del r.(3187_3188del) p.(Gln1063Serfs*15) - Parent #1 ACMG pathogenic g.216380744_216380745del g.216207402_216207403del - - USH2A_000216 - Journal: Reurink 2021 - - Germline no - - - - DNA SEQ-NG - gene panel retinal disease W19-0950 Journal: Reurink 2021 - - - - - - - - - 1 Janine Reurink
+/. - c.3187_3188del r.(?) p.(Gln1063Serfs*15) - Unknown - pathogenic g.216380744_216380745del g.216207402_216207403del USH2A c.3187_3188del, p.Gln1063SerfsTer15 - USH2A_000216 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 184-059 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
?/. - c.3187_3188del r.(?) p.(Gln1063Serfs*15) - Unknown - VUS g.216380744_216380745del g.216207402_216207403del USH2A nucleotide 1, protein 1:c.3187_3188delCA, p.Gln1063Serfs*1 nucleotide 2, protein 2:c.14761G>T, p.Glu4921* - USH2A_000216 error in annotation: c.3187_3188del causes p.(Gln1063Serfs*15) and not p.(Gln1063Serfs*1), heterozygous, ACMG unclassified - no access to supplementary table 2 PubMed: Hull 2020 - - Germline ? - - - - DNA ? blood NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families retinal disease 67 PubMed: Hull 2020 - ? - New Zealand white - - - - 1 LOVD
+?/. 16 c.3187_3188del r.(?) p.(Gln1063Serfs*15) - Unknown - likely pathogenic g.216380743_216380744del - c.3187_3188delCA, p.Q1063Sfs*15 - USH2A_000216 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+?/. 16 c.3187_3188del r.(?) p.(Gln1063Serfs*15) - Unknown - likely pathogenic g.216380743_216380744del - c.3187_3188delCA, p.Q1063Sfs*15 - USH2A_000216 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+/. - c.3187_3188del r.(?) p.(Gln1063Serfs*15) - Parent #2 - pathogenic g.216380744_216380745del g.216207402_216207403del USH2A allele 1: Exon 27 deletion, g.[216250408_216252636del;216247741_216250331del], allele 2: p.Gln1063SerfsX15 - USH2A_000216 - PubMed: Austin-Tse 2018 SCV000709745 - Germline yes - - - - DNA SEQ-NG-I, MLPA - sequenced by dideoxy sequencing or hearing loss gene panel by either microarray-based resequencing or oligonucleotide-based target capture followed by next generation sequencing using Illumina HiSeq2000 or MiSeq instrument USH D-6 PubMed: Austin-Tse 2018 Discovery Cohort ? - United States - - - - - 1 LOVD
+/. - c.3187_3188del r.(?) p.(Gln1063Serfs*15) - Parent #1 ACMG pathogenic g.216380744_216380745del g.216207402_216207403del USH2A c.3187_3188del, p.(Gln1063Serfs*15) - USH2A_000216 heterozygous PubMed: Reurink 2021 - - Unknown ? - - - - DNA SEQ-NG-I - molecular inversion probe-based sequencing retinal disease W19-0950 PubMed: Reurink 2021 genetically unexplained subjects from centers in the Netherlands, Ireland and Poland ? - Netherlands - - - - - 1 LOVD
+/. 16 c.3187_3188del r.(3187_3188del) p.(Gln1063SerfsTer15) - Parent #1 ACMG pathogenic g.216380744_216380745del g.216207402_216207403del - - USH2A_000216 - PubMed: Reurink 2023, Journal: Reurink 2023 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease USH22 PubMed: Reurink 2023, Journal: Reurink 2023 - - - - - - - - - 1 Janine Reurink
+/. - c.3187_3188del r.(?) p.(Gln1063SerfsTer15) - Unknown ACMG pathogenic g.216380744_216380745del g.216207402_216207403del 3187_3188delCA - USH2A_000216 ACMG GN005 criteria: PVS1_VS PM2_P PM3_M PubMed: Reurink, J. et al., 2021; PubMed: Le Quesne Stabej, P. et al., 2012; PubMed: Yan, D. et al., 2009 - rs886039450 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3187_3188delCA r.(?) p.(Gln1063Serfs*15) - Paternal (inferred) - pathogenic g.216380744_216380745del g.216207402_216207403del USH2A c.3187_3188delCA, p.(Gln1063Serfs*15) - USH2A_000216 - PubMed: Steele-Stallard 2013 - - Germline yes - - - - DNA, RNA MLPA, arrayCGH, PCR, RT-PCR, SEQ - RNA isolated from nasal epithelial cells retinal disease 151_II:1 PubMed: Steele-Stallard 2013 proband of family 151_II:1 F - United Kingdom (Great Britain) white - - - - 1 LOVD
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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