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.

15 entries on 1 page. Showing entries 1 - 15.
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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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Re-site     

VIP     

Methylation     

Template     

Technique     

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Disease     

ID_report     

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Owner     
+/+ 41 c.8167C>T r.(8167c>t) p.(Arg2723*) - Parent #1 - pathogenic g.216061824G>A g.215888482G>A - - USH2A_000181 Heterozygous PubMed: Jaijo 2010 - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
+/+ 41 c.8167C>T r.(8167c>t) p.(Arg2723*) - Parent #2 - pathogenic g.216061824G>A g.215888482G>A - - USH2A_000181 Heterozygous PubMed: Jaijo 2010 - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband F - Spain - - - - - 1 Jose Maria Millan
+/+ 41 c.8167C>T r.8167c>t p.Arg2723* - Parent #2 - pathogenic g.216061824G>A g.215888482G>A - - USH2A_000181 Heterozygous PubMed: Vaché 2010 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - USH2 - PubMed: Vaché 2010 Relative F - France - - - - - 1 Anne-Françoise Roux
+/+ 41 c.8167C>T r.8167c>t p.Arg2723* - Parent #2 - pathogenic g.216061824G>A g.215888482G>A - - USH2A_000181 Heterozygous PubMed: Vaché 2010 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - USH2 - PubMed: Vaché 2010 Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 41 c.8167C>T r.(8167c>t) p.(Arg2723*) - Paternal (inferred) - pathogenic g.216061824G>A g.215888482G>A - - USH2A_000181 Homozygous PubMed: Sandberg 2008 - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Sandberg 2008 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 41 c.8167C>T r.(8167c>t) p.(Arg2723*) - Maternal (inferred) - pathogenic g.216061824G>A g.215888482G>A - - USH2A_000181 Homozygous PubMed: Sandberg 2008 - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Sandberg 2008 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 41 c.8167C>T r.(8167c>t) p.(Arg2723*) - Unknown - pathogenic g.216061824G>A g.215888482G>A - - USH2A_000181 Heterozygous PubMed: Sandberg 2008 - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Sandberg 2008 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 41 c.8167C>T r.(8167c>t) p.(Arg2723*) - Unknown - pathogenic g.216061824G>A g.215888482G>A - - USH2A_000181 Heterozygous PubMed: McGee 2010 - - Germline - - - - - DNA SEQ - - USH2 - PubMed: McGee 2010 No genotype in the publication - - United States - - - - - 1 Anne-Françoise Roux
+/. 41 c.8167C>T r.(?) p.(Arg2723*) - Unknown ACMG pathogenic g.216061824G>A g.215888482G>A NM_206933.2:c.8167C>T, NP_996816.2:p.(Arg2723Ter), NC_000001.10:g.216061824G>A - USH2A_000181 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - exome sequencing retinal disease 2016101011 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+/. - c.8167C>T r.(?) p.(Arg2723Ter) - Unknown ACMG pathogenic g.216061824G>A - - - USH2A_000181 - PubMed: Mansard et al, 2021 - rs200712760 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+?/. 41 c.8167C>T r.(?) p.(Arg2723*) - Unknown - likely pathogenic (recessive) g.216061824G>A - c.8167C>T - USH2A_000181 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - WES retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 41 c.8167C>T r.(?) p.(Arg2723*) - Unknown - likely pathogenic (recessive) g.216061824G>A - c.8167C>T - USH2A_000181 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+/. - c.8167C>T r.(?) p.(Arg2723*) - Unknown ACMG pathogenic g.216061824G>A g.215888482G>A USH2A c.8167C>T, p.R2723X - USH2A_000181 heterozygous PubMed: Lee 2020 - - Germline yes - - - - DNA SEQ-NG-I blood Whole exome sequencing USH SB237-461 PubMed: Lee 2020 - M - Korea - - - - - 1 LOVD
+/. 41 c.8167C>T r.(8167c>u) p.(Arg2723Ter) - Parent #1 ACMG pathogenic g.216061824G>A g.215888482G>A - - USH2A_000181 no variant 2nd chromome PubMed: Reurink 2023, Journal: Reurink 2023 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease USH9 PubMed: Reurink 2023, Journal: Reurink 2023 - - - - - - - - - 1 Janine Reurink
+?/. - c.8167C>T r.(?) p.(Arg2723Ter) - Unknown ACMG likely pathogenic g.216061824G>A g.215888482G>A - - USH2A_000181 ACMG GN005 criteria: PVS1_VS PM2_P PubMed: Lee, S. Y. et al., 2020; PubMed: Garcia-Garcia, G. et al., 2014; PubMed: Jin, X. et al., 2022; PubMed: Mansard, L. et al., 2021 - rs200712760 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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