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.

14 entries on 1 page. Showing entries 1 - 14.
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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     

Country     

Population     

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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 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 0 - DNA SEQ - - USH-2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - 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 0 - DNA SEQ - - USH-2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - 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 0 - DNA SEQ - - USH-2 - PubMed: Dreyer 2000 Proband - - Denmark - - 0 - - 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 0 - DNA SEQ - - RPar - PubMed: Bernal 2003 Proband F - Spain - - 0 - - 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 0 - DNA SEQ - - RPar - PubMed: Bernal 2003 Relative F - Spain - - 0 - - 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 0 - DNA SEQ - - RPar - PubMed: Bernal 2003 Relative F - Spain - - 0 - - 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 0 - DNA PE, SEQ - APEX USH-2 - PubMed: Vozzi 2011 Proband - - Italy - - 0 - - 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 0 - DNA PE, SEQ - APEX USH-2 - PubMed: Vozzi 2011 Proband - - Italy - - 0 - - 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 0 - DNA SEQ - - USH-2 - PubMed: Sodi 2014 Proband - - Italy - - 0 - - 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 0 - DNA SEQ - - USH-2 P50 PubMed: Pierrottet 2014 Proband - - Italy - - 0 - - 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 - - - 0 - DNA SEQ-NG - - retinal disease 578 PubMed: Stone 2017 family, 2 affected M - (United States) - - 0 - - 2 -
+/. 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 - - - 0 - DNA SEQ - - retinal disease USH2-43 (D10) PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 family, 2 affeted M no Denmark - - 0 - - 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 - - - 0 - DNA SEQ - - retinal disease USH2-43a (D06) PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 - M no Denmark - - 0 - - 1 Anne-Françoise Roux
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