Full data view for gene USH1C


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_153676.3 transcript reference sequence.

67 entries on 1 page. Showing entries 1 - 67.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Exon_old     

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     
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Paternal (inferred) - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 homozygous PubMed: Verpy 2000 - - Germline - - none - - DNA SEQ - - USH1 - PubMed: Verpy 2000 Proband - - United Kingdom (Great Britain) - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Paternal (inferred) - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 homozygous PubMed: Verpy 2000 - - Germline - - none - - DNA SEQ - - USH1 - PubMed: Verpy 2000 Relative - - United Kingdom (Great Britain) - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Paternal (inferred) - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 homozygous PubMed: Verpy 2000 - - Germline - - none - - DNA SEQ - - USH1 - PubMed: Verpy 2000 Relative - - United Kingdom (Great Britain) - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Parent #2 - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 heterozygous PubMed: Verpy 2000 - - Germline - - none - - DNA SEQ - - USH1 - PubMed: Verpy 2000 Proband - - Canada - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Unknown - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 heterozygous PubMed: Verpy 2000 - - Germline - - none - - DNA SEQ - - USH1 - PubMed: Verpy 2000 Proband - - Germany - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Unknown - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 heterozygous PubMed: Verpy 2000 - - Germline - - none - - DNA SEQ - - USH1 - PubMed: Verpy 2000 Proband - - Germany - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Unknown - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 heterozygous PubMed: Verpy 2000 - - Germline - - none - - DNA SEQ - - USH1 - PubMed: Verpy 2000 Proband - - Germany - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Unknown - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 heterozygous PubMed: Verpy 2000 - - Germline - - none - - DNA SEQ - - USH1 - PubMed: Verpy 2000 Proband - - Germany - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Maternal (inferred) - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 homozygous PubMed: Verpy 2000 - - Germline - - none - - DNA SEQ - - USH1 - PubMed: Verpy 2000 Proband - - United Kingdom (Great Britain) - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Maternal (inferred) - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 homozygous PubMed: Verpy 2000 - - Germline - - none - - DNA SEQ - - USH1 - PubMed: Verpy 2000 Relative - - United Kingdom (Great Britain) - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Maternal (inferred) - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 homozygous PubMed: Verpy 2000 - - Germline - - none - - DNA SEQ - - USH1 - PubMed: Verpy 2000 Relative - - United Kingdom (Great Britain) - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Paternal (inferred) - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 homozygous PubMed: Bitner-Glindzicz 2000 - - Germline - 0/160 controls none - - DNA SEQ - - USH1 Fam PubMed: Bitner-Glindzicz 2000 Acadian cell lines M yes United States - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Both (homozygous) - pathogenic (recessive) g.17552961dup g.17531414dup - - USH1C_000003 - PubMed: Bitner-Glindzicz 2000 - - Germline yes 0/160 controls none - - DNA SEQ - - USH1 Fam3-proband PubMed: Bitner-Glindzicz 2000 family, 3-affected sibs (2 brothers and a sister), proband M yes Pakistan - - - - - 3 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Both (homozygous) - pathogenic (recessive) g.17552961dup g.17531414dup 238dupC - USH1C_000003 homozygous PubMed: Bitner-Glindzicz 2000 - - Germline yes 0/160 controls none - - DNA SEQ - - USH1 Fam3Pat2 PubMed: Bitner-Glindzicz 2000 relative M yes Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Maternal (inferred) - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 homozygous PubMed: Bitner-Glindzicz 2000 - - Germline - 0/160 controls none - - DNA SEQ - - USH1 Fam PubMed: Bitner-Glindzicz 2000 Acadian cell lines M yes United States - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Paternal (inferred) - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 homozygous PubMed: Zwaenepoel 2001 - - Germline - - none - - DNA SEQ - - USH1 - PubMed: Zwaenepoel 2001 Proband - - - - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Parent #1 - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 heterozygous PubMed: Zwaenepoel 2001 - - Germline - - none - - DNA SEQ - - USH1 - PubMed: Zwaenepoel 2001 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Parent #1 - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 heterozygous PubMed: Zwaenepoel 2001 - - Germline - - none - - DNA SEQ - - USH1 - PubMed: Zwaenepoel 2001 Proband - - - - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Maternal (inferred) - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 homozygous PubMed: Zwaenepoel 2001 - - Germline - - none - - DNA SEQ - - USH1 - PubMed: Zwaenepoel 2001 Proband - - - - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Parent #1 - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 heterozygous PubMed: Zwaenepoel 2001 - - Germline - - none - - DNA SEQ - - USH1 - PubMed: Zwaenepoel 2001 Proband - - - - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Parent #1 - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 heterozygous PubMed: Zwaenepoel 2001 - - Germline - - none - - DNA SEQ - - USH1 - PubMed: Zwaenepoel 2001 Proband - - - - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Parent #1 - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 heterozygous PubMed: Zwaenepoel 2001 - - Germline - - none - - DNA SEQ - - USH1 - PubMed: Zwaenepoel 2001 Proband - - - - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Paternal (inferred) - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 homozygous PubMed: Blaydon 2003 - - Germline - - none - - DNA SEQ - - USH1 - PubMed: Blaydon 2003 Proband - - Greece - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Unknown - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 heterozygous PubMed: Blaydon 2003 - - Germline - - none - - DNA SEQ - - USH1 - PubMed: Blaydon 2003 Proband - - - - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Maternal (inferred) - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 homozygous PubMed: Blaydon 2003 - - Germline - - none - - DNA SEQ - - USH1 - PubMed: Blaydon 2003 Proband - - Greece - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Paternal (inferred) - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 homozygous PubMed: Ouyang 2005 - - Germline - - none - - DNA SEQ - - USH1 - PubMed: Ouyang 2005 Proband - - - - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Maternal (inferred) - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 homozygous PubMed: Ouyang 2005 - - Germline - - none - - DNA SEQ - - USH1 - PubMed: Ouyang 2005 Proband - - - - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Paternal (inferred) - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 homozygous PubMed: Roux 2006 - - Germline - - none - - DNA SEQ - - USH1 - PubMed: Roux 2006 Proband M - Guinea - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Maternal (inferred) - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 homozygous PubMed: Roux 2006 - - Germline - - none - - DNA SEQ - - USH1 - PubMed: Roux 2006 Proband M - Guinea - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Parent #1 - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 heterozygous PubMed: Ebermann 2007 - - Germline - 0/200 controls none - - DNA SEQ - - USH1 - PubMed: Ebermann 2007 Proband - - Canada - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Parent #2 - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 heterozygous PubMed: Ebermann 2007 - - Germline - 0/200 controls none - - DNA SEQ - - USH1 - PubMed: Ebermann 2007 Proband M - Canada - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Unknown - pathogenic g.17552961dup g.17531414dup 280inC - USH1C_000003 heterozygous PubMed: Kimberling 2010 - - Germline - - none - - DNA SEQ - - DFNB - PubMed: Kimberling 2010 Proband - No ophtalmologic examination - - United States - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Paternal (confirmed) - pathogenic g.17552961dup g.17531414dup 238_239dupC - USH1C_000003 homozygous; Pathogenic PubMed: Bonnet 2011 - - Germline - - none - - DNA SEQ - - USH1 - PubMed: Bonnet 2011 Proband M - - - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Parent #1 - pathogenic g.17552961dup g.17531414dup 238_239dupC - USH1C_000003 heterozygous; Pathogenic PubMed: Bonnet 2011 - - Germline - - none - - DNA SEQ - - USH1 - PubMed: Bonnet 2011 Proband - - - - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Maternal (confirmed) - pathogenic g.17552961dup g.17531414dup 238_239dupC - USH1C_000003 homozygous; Pathogenic PubMed: Bonnet 2011 - - Germline - - none - - DNA SEQ - - USH1 - PubMed: Bonnet 2011 Proband M - - - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Unknown - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - - Germline - 0/878 controls none - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Paternal (inferred) - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 homozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - - Germline - 0/878 controls none - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Maternal (inferred) - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 homozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - - Germline - 0/878 controls none - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Paternal (inferred) - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 homozygous PubMed: Bujakowska 2014 - - Germline - - none - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bujakowska 2014 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Paternal (inferred) - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 homozygous PubMed: Bujakowska 2014 - - Germline - - none - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bujakowska 2014 Proband F - United States - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Maternal (inferred) - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 homozygous PubMed: Bujakowska 2014 - - Germline - - none - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bujakowska 2014 Proband F - United States - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Parent #1 - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 heterozygous PubMed: Bujakowska 2014 - - Germline - - none - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bujakowska 2014 Proband F - United States - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Parent #2 - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 heterozygous PubMed: Bujakowska 2014 - - Germline - - none - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bujakowska 2014 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Parent #2 - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 heterozygous PubMed: Bujakowska 2014 - - Germline - - none - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bujakowska 2014 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) N-domain (1-86) 3 Parent #2 - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 heterozygous PubMed: Bujakowska 2014 - - Germline - - none - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bujakowska 2014 Relative - - United States - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) N-domain (1-86) 3 Maternal (inferred) - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 homozygous PubMed: Bujakowska 2014 - - Germline - - none - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bujakowska 2014 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) N-domain (1-86) 3 Paternal (inferred) - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 homozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bonnet 2016 Proband F - Italy - - - - - 1 Crystel Bonnet
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) N-domain (1-86) 3 Paternal (inferred) - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 homozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bonnet 2016 Proband F - Italy - - - - - 1 Crystel Bonnet
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) N-domain (1-86) 3 Maternal (confirmed) - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 homozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) N-domain (1-86) 3 Parent #1 - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bonnet 2016 Proband F - France - - - - - 1 Crystel Bonnet
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) N-domain (1-86) 3 Unknown - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bonnet 2016 Proband M - Germany - - - - - 1 Crystel Bonnet
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) N-domain (1-86) 3 Maternal (inferred) - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 homozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bonnet 2016 Proband F - Italy - - - - - 1 Crystel Bonnet
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Maternal (inferred) - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 homozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bonnet 2016 Proband F - Italy - - - - - 1 Crystel Bonnet
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Maternal (confirmed) - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 homozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) - 3 Paternal (inferred) - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 homozygous - - - Germline - - none - - DNA SEQ - - USH1 - - Relative F - Guinea - - - - - 1 Anne-Françoise Roux
+/+ 3 c.238dup r.(?) p.(Arg80Profs*69) PDZ 1 (87-155) 3 Maternal (inferred) - pathogenic g.17552961dup g.17531414dup - - USH1C_000003 homozygous - - - Germline - - none - - DNA SEQ - - USH1 - - Relative F - Guinea - - - - - 1 Anne-Françoise Roux
+/. - c.238dup r.(?) p.(Arg80ProfsTer69) - - Unknown - pathogenic g.17552961dup g.17531414dup USH1C(NM_153676.3):c.238dupC (p.R80Pfs*69) - USH1C_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.238dup r.(?) p.(Arg80Profs*69) - - Both (homozygous) - likely pathogenic (recessive) g.17552956dup g.17531409dup - - USH1C_000003 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 homozygous patient - - Norway - - - - - 1 Global Variome, with Curator vacancy
+/. - c.238dup r.(?) p.(Arg80Profs*69) - - Unknown ACMG pathogenic g.17552956dup - - - USH1C_000003 - PubMed: Sharon 2019 - - Germline - 2/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 2 IRD families - - Israel - - - - - 2 Global Variome, with Curator vacancy
+?/. - c.238dup r.(?) p.(Arg80Profs*69) - - Both (homozygous) - likely pathogenic g.17552961dup g.17531414dup 232_233insC - USH1C_000003 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 539 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
+/. 3 c.238dup r.(?) p.(Arg80Profs*69) - - Both (homozygous) - pathogenic (recessive) g.17552961dup g.17531414dup - - USH1C_000003 - PubMed: Janecke 1999 - - Germline - - - - - DNA PE - - retinal disease USH1-19 PubMed: Janecke 1999 - M no Denmark - - - - - 1 LOVD
+/. 3 c.238dup r.(?) p.(Arg80Profs*69) - - Parent #2 - pathogenic (recessive) g.17552961dup g.17531414dup - - USH1C_000003 - PubMed: Cremers 2007 - - Germline - - - - - DNA PE - - retinal disease USH1-17 PubMed: Cremers 2007 - M no Denmark - - - - - 1 LOVD
+/. - c.238dup r.(?) p.(Arg80Profs*69) - - Unknown ACMG pathogenic g.17552961dup g.17531414dup USH1C c.238dup, p.(Arg80Profs*69) - USH1C_000003 single heterozygous variant (recessive) PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 474 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.238dup r.(?) p.(Arg80Profs*69) - - Unknown ACMG pathogenic g.17552961dup g.17531414dup USH1C c.238dup, p.(Arg80Profs*69) - USH1C_000003 single heterozygous variant (recessive) PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 475 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
?/. - c.238dup r.(?) p.(Arg80Profs*69) - - Unknown - VUS g.17552961dup g.17531414dup USH1C c.238dup, p.Arg80ProfsTer69 - USH1C_000003 unsolved PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI737_001456 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. - c.238dup r.(?) p.(Arg80Profs*69) - - Both (homozygous) - pathogenic g.17552961dup g.17531414dup USH1C c.238dupC, p.Arg80ProfsTer69 - USH1C_000003 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001029 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.238dup r.(?) p.(Arg80ProfsTer69) - - Both (homozygous) - pathogenic (recessive) g.17552961dup g.17531414dup - - USH1C_000003 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4707 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
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