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.

27 entries on 1 page. Showing entries 1 - 27.
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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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VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 22 c.4645C>T r.(?) p.(Arg1549*) - Both (homozygous) - pathogenic g.216270538G>A g.216097196G>A - - USH2A_000103 - PubMed: Maranha 2015, Journal: Maranhao 2015, PubMed: Li 2017 - rs199679165 Germline yes - - - - DNA SEQ WBC - RD PKRD141;61141 PubMed: Li 2017 - F yes Pakistan Pakistani - - - - 1 James Hejtmancik
+/. - c.4645C>T r.(?) p.(Arg1549Ter) - Unknown - pathogenic g.216270538G>A g.216097196G>A - - USH2A_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 22 c.4645C>T r.(?) p.(Arg1549*) Laminin G-like 1 (1517-1709) Maternal (confirmed) - pathogenic g.216270538G>A g.216097196G>A - - USH2A_000103 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs199679165 Germline - - -BstBI;-TaqI; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 22 c.4645C>T r.(?) p.(Arg1549*) Laminin G-like 1 (1517-1709) Parent #2 - pathogenic g.216270538G>A g.216097196G>A - - USH2A_000103 Heterozygous PubMed: Baux 2007 - rs199679165 Germline - - -BstBI;-TaqI; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 22 c.4645C>T r.(?) p.(Arg1549*) Laminin G-like 1 (1517-1709) Parent #2 - pathogenic g.216270538G>A g.216097196G>A - - USH2A_000103 Heterozygous PubMed: Rivolta 2000 - rs199679165 Germline - - -BstBI;-TaqI; - - DNA SEQ - - USH2 - PubMed: Rivolta 2000 Proband - Genotype deduced from Sandberg et al., 2008 - - United States - - - - - 1 Anne-Françoise Roux
+/+ 22 c.4645C>T r.(?) p.(Arg1549*) Laminin G-like 1 (1517-1709) Parent #2 - pathogenic g.216270538G>A g.216097196G>A - - USH2A_000103 Heterozygous PubMed: Rivolta 2000 - rs199679165 Germline - - -BstBI;-TaqI; - - DNA SEQ - - USH2 - PubMed: Rivolta 2000 Proband - Genotype deduced from Sandberg et al., 2008 - - United States - - - - - 1 Anne-Françoise Roux
+/+ 22 c.4645C>T r.(?) p.(Arg1549*) Laminin G-like 1 (1517-1709) Paternal (inferred) - pathogenic g.216270538G>A g.216097196G>A - - USH2A_000103 Homozygous PubMed: Baux 2014 - rs199679165 Germline - - -BstBI;-TaqI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Algeria - - - - - 1 Anne-Françoise Roux
+/+ 22 c.4645C>T r.(?) p.(Arg1549*) Laminin G-like 1 (1517-1709) Maternal (inferred) - pathogenic g.216270538G>A g.216097196G>A - - USH2A_000103 Homozygous PubMed: Baux 2014 - rs199679165 Germline - - -BstBI;-TaqI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Algeria - - - - - 1 Anne-Françoise Roux
+/+ 22 c.4645C>T r.(?) p.(Arg1549*) Laminin G-like 1 (1517-1709) Unknown - pathogenic g.216270538G>A g.216097196G>A - - USH2A_000103 Heterozygous PubMed: Sandberg 2008 - rs199679165 Germline - - -BstBI;-TaqI; - - DNA SEQ - - USH2 - PubMed: Sandberg 2008 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 22 c.4645C>T r.(?) p.(Arg1549*) Laminin G-like 1 (1517-1709) Unknown - pathogenic g.216270538G>A g.216097196G>A - - USH2A_000103 Heterozygous PubMed: McGee 2010 - rs199679165 Germline - - -BstBI;-TaqI; - - DNA SEQ - - USH2 - PubMed: McGee 2010 No genotype in the publication - - United States - - - - - 1 Anne-Françoise Roux
+/+ 22 c.4645C>T r.(?) p.(Arg1549*) Laminin G-like 1 (1517-1709) Parent #2 - pathogenic g.216270538G>A g.216097196G>A - - USH2A_000103 Heterozygous; Pathogenic PubMed: Garcia-Garcia 2011 - rs199679165 Germline - - -BstBI;-TaqI; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband F - Spain - - - - - 1 Jose Maria Millan
+/+ 22 c.4645C>T r.(?) p.(Arg1549*) Laminin G-like 1 (1517-1709) Parent #2 - pathogenic g.216270538G>A g.216097196G>A - - USH2A_000103 Heterozygous; mutation PubMed: Bonnet 2016 - rs199679165 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+/+ 22 c.4645C>T r.(?) p.(Arg1549*) Laminin G-like 1 (1517-1709) Parent #1 - pathogenic g.216270538G>A g.216097196G>A - - USH2A_000103 Heterozygous; mutation PubMed: Bonnet 2016 - rs199679165 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 22 c.4645C>T r.(?) p.(Arg1549*) Laminin G-like 1 (1517-1709) Maternal (confirmed) - pathogenic g.216270538G>A g.216097196G>A - - USH2A_000103 Heterozygous PubMed: Baux, Vaché 2017 - rs199679165 Germline - - -BstBI;-TaqI; - - DNA SEQ, SEQ-NG-S - - DFN S1679 PubMed: Baux 2017 Proband - Age 14 at the time of the study - possible USH2 F - France - - - - - 1 Anne-Françoise Roux
+?/. - c.4645C>T r.(?) p.(Arg1549*) - Parent #2 - likely pathogenic g.216270538G>A g.216097196G>A - - USH2A_000103 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 546 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.4645C>T r.(?) p.(Arg1549Ter) - Parent #2 - likely pathogenic g.216270538G>A g.216097196G>A - - USH2A_000103 - PubMed: Bravo-Gil 2017 - - Germline - - - - - DNA SEQ-NG - 68-gene panel retinal disease Pat74 PubMed: Bravo-Gil 2017 patient - - Spain - - - - - 1 Nereida Bravo Gil
+?/. - c.4645C>T r.(?) p.(Arg1549*) - Unknown - likely pathogenic g.216270538G>A g.216097196G>A - - USH2A_000103 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13008753 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+/. - c.4645C>T r.(?) p.(Arg1549Ter) - Parent #1 - pathogenic g.216270538G>A g.216097196G>A - - USH2A_000103 - PubMed: Zhao 2015 - - Germline - - - - - DNA SEQ-NG - 86-gene panel retinal disease Rp170 PubMed: Zhao 2015 simplex case - - Northern Ireland - - - - - 1 LOVD
+/. 22 c.4645C>T r.(4645c>u) p.(Arg1549*) - Parent #1 ACMG pathogenic g.216270538G>A g.216097196G>A - - USH2A_000103 - Journal: Reurink 2021 - - Germline no - - - - DNA SEQ-NG - gene panel retinal disease W19-0943 Journal: Reurink 2021 - - - - - - - - - 1 Janine Reurink
+?/. - c.4645C>T r.(?) p.(Arg1549*) - Unknown - likely pathogenic g.216270538G>A g.216097196G>A c.187C>T p.(Arg63*), c.4645C>T p.(Arg1549*) - USH2A_000103 - PubMed: Hagag 2020 - - Germline/De novo (untested) ? - - - - DNA ? - - retinal disease Subject 039 PubMed: Hagag 2020 - ? - - - - - - - 1 LOVD
+/. 22 c.4645C>T r.(?) p.(Arg1549*) - Unknown ACMG pathogenic g.216270538G>A g.216097196G>A USH2A c.4645C>T, p.(Arg1549*) - USH2A_000103 heterozygous PubMed: Dan 2020 - - Germline/De novo (untested) yes - - - - DNA SEQ-NG blood Panel 1 containing 70 genes retinal disease 27 PubMed: Dan 2020 - M ? China - - - - - 1 LOVD
+?/. - c.4645C>T r.(?) p.(Arg1549*) - Parent #1 - likely pathogenic g.216270538G>A g.216097196G>A USH2A c.4645C>T, p.(Arg1549) - USH2A_000103 heterozygous PubMed: Molina-Ramirez 2020 - - Unknown ? - - - - DNA SEQ-NG-I - 14 patients: 105-gene panel, 13 samples: 176-gene panel using previously described method (O', Sullivan J et al. 2012) USH 13008753 PubMed: Molina-Ramirez 2020 - F - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.4645C>T r.(?) p.(Arg1549*) - Parent #1 - likely pathogenic g.216270538G>A g.216097196G>A USH2A c.4645C>T, p.(Arg1549) - USH2A_000103 heterozygous PubMed: Molina-Ramirez 2020 - - Unknown ? - - - - DNA SEQ-NG-I - 14 patients: 105-gene panel, 13 samples: 176-gene panel using previously described method (O', Sullivan J et al. 2012) retinal disease 15008755 PubMed: Molina-Ramirez 2020 - F - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.4645C>T r.(?) p.(Arg1549*) - Parent #1 - pathogenic g.216270538G>A g.216097196G>A USH2A c.4645C>T, p.Arg1549* - USH2A_000103 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH RD18043350 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. 22 c.4645C>T r.(?) p.(Arg1549*) - Parent #2 ACMG pathogenic g.216270538G>A g.216097196G>A USH2A c.4645C>T, p.R1549* - USH2A_000103 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 967 PubMed: Zhu 2021 family 235, patient 967 M - China - - - - - 1 LOVD
+/. - c.4645C>T r.(?) p.(Arg1549*) - Parent #1 ACMG pathogenic g.216270538G>A g.216097196G>A USH2A c.4645C>T, p.(Arg1549*) - USH2A_000103 heterozygous PubMed: Reurink 2021 - - Unknown ? - - - - DNA SEQ-NG-I - molecular inversion probe-based sequencing retinal disease W19-0943 PubMed: Reurink 2021 genetically unexplained subjects from centers in the Netherlands, Ireland and Poland ? - Netherlands - - - - - 1 LOVD
+/. - c.4645C>T r.(?) p.(Arg1549Ter) - Unknown ACMG pathogenic g.216270538G>A g.216097196G>A - - USH2A_000103 ACMG GN005 criteria: PVS1_VS PM2_P PM3_VS PubMed: Gao, F. J. et al., 2021; PubMed: Molina-Ramirez, L. P. et al., 2020; PubMed: Reurink, J. et al., 2021; PubMed: Bonnet, C. et al., 2016; PubMed: Huang, L. et al., 2018; PubMed: Le Quesne Stabej, P. et al., 2012; PubMed: Garcia-Garcia, G. et al., 2011; PubMed: Sloan-Heggen, C. M. et al., 2016; PubMed: Bravo-Gil, N. et al., 2017 - rs199679165 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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