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.

24 entries on 1 page. Showing entries 1 - 24.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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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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Disease     

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Owner     
+/? 6 c.1055C>T r.(?) p.(Thr352Ile) Laminin N-terminal (271-517) Parent #1 ACMG likely pathogenic g.216498735G>A g.216325393G>A - - USH2A_000046 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - - Germline - - -CviQI;-RsaI; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - Italy - - - - - 1 Anne-Françoise Roux
+/? 6 c.1055C>T r.(?) p.(Thr352Ile) Laminin N-terminal (271-517) Parent #1 ACMG likely pathogenic g.216498735G>A g.216325393G>A - - USH2A_000046 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - - Germline - - -CviQI;-RsaI; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - Italy - - - - - 1 Anne-Françoise Roux
+/? 6 c.1055C>T r.(?) p.(Thr352Ile) Laminin N-terminal (271-517) Parent #1 ACMG likely pathogenic g.216498735G>A g.216325393G>A - - USH2A_000046 Heterozygous USMA missense analysis, missense variant in MSV3d - - Germline - - -CviQI;-RsaI; - - DNA SEQ - - USH2 - - Relative F - Italy - - - - - 1 Anne-Françoise Roux
+/? 6 c.1055C>T r.(?) p.(Thr352Ile) Laminin N-terminal (271-517) Parent #2 ACMG likely pathogenic g.216498735G>A g.216325393G>A - - USH2A_000046 Heterozygous; Presumably pathogenic PubMed: Bonnet 2011, USMA missense analysis, missense variant in MSV3d - - Germline - 0/306 controls -CviQI;-RsaI; - - DNA SEQ - - USH2 - PubMed: Bonnet 2011 Proband - - - - - - - - 1 Anne-Françoise Roux
+/? 6 c.1055C>T r.(?) p.(Thr352Ile) Laminin N-terminal (271-517) Unknown ACMG likely pathogenic g.216498735G>A g.216325393G>A - - USH2A_000046 Heterozygous PubMed: Besnard, Garcia-Garcia 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - -CviQI;-RsaI; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Besnard, Garcia-Garcia 2014 Proband M - - - - - - - 1 Anne-Françoise Roux
+/? 6 c.1055C>T r.(?) p.(Thr352Ile) Laminin N-terminal (271-517) Unknown ACMG likely pathogenic g.216498735G>A g.216325393G>A - - USH2A_000046 Heterozygous; Pathogenic PubMed: Lenarduzzi 2015, USMA missense analysis, missense variant in MSV3d - - Germline - - -CviQI;-RsaI; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Lenarduzzi 2015 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/? 6 c.1055C>T r.(?) p.(Thr352Ile) Laminin N-terminal (271-517) Parent #2 ACMG likely pathogenic g.216498735G>A g.216325393G>A - - USH2A_000046 Heterozygous PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband F - Italy - - - - - 1 Crystel Bonnet
+/? 6 c.1055C>T r.(?) p.(Thr352Ile) Laminin N-terminal (271-517) Parent #2 ACMG likely pathogenic g.216498735G>A g.216325393G>A - - USH2A_000046 Heterozygous PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/. - c.1055C>T r.(?) p.(Thr352Ile) - Unknown - pathogenic (recessive) g.216498735G>A - 1:216498735G>A ENST00000307340.3:c.1055C>T (Thr352Ile) - USH2A_000046 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WES retinal disease B240069 PubMed: Carss 2017 - F - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.1055C>T r.(?) p.(Thr352Ile) - Parent #1 - likely pathogenic (recessive) g.216498735G>A g.216325393G>A - - USH2A_000046 - PubMed: Eandi 2017 - - Germline yes - - - - DNA SEQ-NG - 11-gene panel retinal disease Fam10PatTO12 PubMed: Eandi 2017 2-generation family, 2 affected M - Italy - - - - - 2 LOVD
+?/. - c.1055C>T r.(?) p.(Thr352Ile) - Parent #1 - likely pathogenic (recessive) g.216498735G>A g.216325393G>A - - USH2A_000046 - PubMed: Eandi 2017 - - Germline yes - - - - DNA SEQ-NG - 11-gene panel retinal disease Fam10PatTO13 PubMed: Eandi 2017 sister F - Italy - - - - - 1 LOVD
+?/. 6 c.1055C>T r.(?) p.(Thr352Ile) - Unknown - likely pathogenic g.216498735G>A g.216325393G>A USH2A Ex.6 c.1055C>T p.(Thr352Ile), Ex.13 c.2276G>T p.(Cys759Phe) - USH2A_000046 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-2849 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. - c.1055C>T r.(?) p.(Thr352Ile) - Unknown ACMG likely pathogenic g.216498735G>A - - - USH2A_000046 - PubMed: Mansard et al, 2021 - rs780308389 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+?/. - c.1055C>T r.(?) p.(Thr352Ile) - Unknown ACMG likely pathogenic g.216498735G>A - - - USH2A_000046 - PubMed: Mansard et al, 2021 - rs780308389 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+?/. - c.1055C>T r.(?) p.(Thr352Ile) - Unknown ACMG likely pathogenic g.216498735G>A - - - USH2A_000046 - PubMed: Mansard et al, 2021 - rs780308389 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+?/. - c.1055C>T r.(?) p.(Thr352Ile) - Parent #1 ACMG likely pathogenic g.216498735G>A g.216325393G>A USH2A c.1055C>T, p.(Thr352Ile) - USH2A_000046 - PubMed: Rodriguez Munoz 2021 - - Germline yes - - - - DNA SEQ-NG blood custom panel of 117 IRD-associated genes retinal disease RPN-336 PubMed: Rodriguez Munoz 2021 family ID fRPN-169, proband F - Spain - - - - - 1 LOVD
+?/. - c.1055C>T r.(?) p.(Thr352Ile) - Parent #1 ACMG likely pathogenic g.216498735G>A g.216325393G>A USH2A c.1055C>T, p.(Thr352Ile) - USH2A_000046 - PubMed: Rodriguez Munoz 2021 - - Germline yes - - - - DNA SEQ-NG blood custom panel of 117 IRD-associated genes retinal disease RPN-336 PubMed: Rodriguez Munoz 2021 family ID fRPN-169, proband F - Spain - - - - - 1 LOVD
+/. 6 c.1055C>T r.(?) p.(Thr352Ile) - Unknown - pathogenic (recessive) g.216498735G>A - c.1055C>T - USH2A_000046 - PubMed: Colombo-2020 - rs780308389 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+/. 6 c.1055C>T r.(?) p.(Thr352Ile) - Both (homozygous) - pathogenic g.216498735G>A - c.1055C>T - USH2A_000046 - PubMed: Colombo-2020 - rs780308389 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+/. 6 c.1055C>T r.(?) p.(Thr352Ile) - Unknown - pathogenic g.216498735G>A - c.1055C>T - USH2A_000046 - PubMed: Colombo-2020 - rs780308389 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+/. - c.1055C>T r.(?) p.(Thr352Ile) - Parent #2 - pathogenic g.216498735G>A g.216325393G>A USH2A allele 1: Exon 57-60 duplication, g.215905246_215933262dup, allele 2: p.Thr352lleMS - USH2A_000046 - PubMed: Austin-Tse 2018 SCV000709742 - Germline yes - - - - DNA SEQ-NG-I, PCRdd - 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 SNHL R-12 PubMed: Austin-Tse 2018 Retrospective Cohort ? - United States - - - - - 1 LOVD
+/. - c.1055C>T r.(?) p.(Thr352Ile) - Parent #1 - pathogenic g.216498735G>A g.216325393G>A USH2A c.1055C>T, p.(Thr352Ile) - USH2A_000046 heterozygous PubMed: Falsini 2021 - - Germline yes - - - - DNA SEQ-NG-I - retrospective study (warning: duplicates in database possible) retinal disease 13 PubMed: Falsini 2021 - F - Italy - - - - - 1 LOVD
+?/. 6 c.1055C>T r.(?) p.(Thr352Ile) - Parent #1 - likely pathogenic g.216498735G>A - c.1055C>T - USH2A_000046 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. - c.1055C>T r.(?) p.(Thr352Ile) - Unknown ACMG pathogenic g.216498735G>A g.216325393G>A - - USH2A_000046 ACMG GN005 criteria: PM2_P PM3_VS PP3_P PP1_P PubMed: Falsini, B. et al., 2021; PubMed: Bonnet, C. et al., 2016; PubMed: Colombo, L. et al., 2022; PubMed: Ganapathi, M. et al., 2022; PubMed: Mansard, L. et al., 2021; PubMed: Colombo, L. et al., 2021; PubMed: Eandi, C. M. et al., 2017 - rs780308389 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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