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.

39 entries on 1 page. Showing entries 1 - 39.
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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     
+/+ 20 c.4338_4339del r.(?) p.(Cys1447Glnfs*29) Fibronectin type-III 4 (1367-1462) Paternal (inferred) - pathogenic g.216363626_216363627del g.216190284_216190285del 4338_4339delCT - USH2A_000007 Homozygous PubMed: Ebermann 2009 - rs111033367 Germline - 0/207 controls none - - DNA SEQ - - USH2 - PubMed: Ebermann 2009 Proband F - Canada - - - - - 1 Anne-Françoise Roux
+/+ 20 c.4338_4339del r.(?) p.(Cys1447Glnfs*29) Fibronectin type-III 4 (1367-1462) Maternal (inferred) - pathogenic g.216363626_216363627del g.216190284_216190285del 4338_4339delCT - USH2A_000007 Homozygous PubMed: Ebermann 2009 - rs111033367 Germline - 0/207 controls none - - DNA SEQ - - USH2 - PubMed: Ebermann 2009 Proband F - Canada - - - - - 1 Anne-Françoise Roux
+/+ 20 c.4338_4339del r.(?) p.(Cys1447Glnfs*29) Fibronectin type-III 4 (1367-1462) Parent #2 - pathogenic g.216363626_216363627del g.216190284_216190285del 4338_4339delCT - USH2A_000007 Heterozygous PubMed: Ebermann 2009 - rs111033367 Germline - - none - - DNA SEQ - - USH2 - PubMed: Ebermann 2009 Proband - - Canada - - - - - 1 Anne-Françoise Roux
+/+ 20 c.4338_4339del r.(?) p.(Cys1447Glnfs*29) Fibronectin type-III 4 (1367-1462) Parent #2 - pathogenic g.216363626_216363627del g.216190284_216190285del 4338_4339delCT - USH2A_000007 Heterozygous PubMed: Ebermann 2009 - rs111033367 Germline - - none - - DNA SEQ - - USH2 - PubMed: Ebermann 2009 Proband - - Canada - - - - - 1 Anne-Françoise Roux
+/+ 20 c.4338_4339del r.(?) p.(Cys1447Glnfs*29) Fibronectin type-III 4 (1367-1462) Paternal (inferred) - pathogenic g.216363626_216363627del g.216190284_216190285del 4338_4339delCT - USH2A_000007 Homozygous PubMed: Ebermann 2009 - rs111033367 Germline - - none - - DNA SEQ - - USH2 - PubMed: Ebermann 2009 Proband - - Canada - - - - - 1 Anne-Françoise Roux
+/+ 20 c.4338_4339del r.(?) p.(Cys1447Glnfs*29) Fibronectin type-III 4 (1367-1462) Maternal (inferred) - pathogenic g.216363626_216363627del g.216190284_216190285del 4338_4339delCT - USH2A_000007 Homozygous PubMed: Ebermann 2009 - rs111033367 Germline - - none - - DNA SEQ - - USH2 - PubMed: Ebermann 2009 Proband - - Canada - - - - - 1 Anne-Françoise Roux
+/+ 20 c.4338_4339del r.(?) p.(Cys1447Glnfs*29) Fibronectin type-III 4 (1367-1462) Paternal (inferred) - pathogenic g.216363626_216363627del g.216190284_216190285del 4338_4339delCT - USH2A_000007 Homozygous PubMed: Ebermann 2009 - rs111033367 Germline - - none - - DNA SEQ - - USH2 - PubMed: Ebermann 2009 Proband - - Canada - - - - - 1 Anne-Françoise Roux
+/+ 20 c.4338_4339del r.(?) p.(Cys1447Glnfs*29) Fibronectin type-III 4 (1367-1462) Maternal (inferred) - pathogenic g.216363626_216363627del g.216190284_216190285del 4338_4339delCT - USH2A_000007 Homozygous PubMed: Ebermann 2009 - rs111033367 Germline - - none - - DNA SEQ - - USH2 - PubMed: Ebermann 2009 Proband - - Canada - - - - - 1 Anne-Françoise Roux
+/+ 20 c.4338_4339del r.(?) p.(Cys1447Glnfs*29) Fibronectin type-III 4 (1367-1462) Paternal (inferred) - pathogenic g.216363626_216363627del g.216190284_216190285del 4338_4339delCT - USH2A_000007 Homozygous PubMed: Ebermann 2009 - rs111033367 Germline - - none - - DNA SEQ - - USH2 - PubMed: Ebermann 2009 Proband - - Canada - - - - - 1 Anne-Françoise Roux
+/+ 20 c.4338_4339del r.(?) p.(Cys1447Glnfs*29) Fibronectin type-III 4 (1367-1462) Maternal (inferred) - pathogenic g.216363626_216363627del g.216190284_216190285del 4338_4339delCT - USH2A_000007 Homozygous PubMed: Ebermann 2009 - rs111033367 Germline - - none - - DNA SEQ - - USH2 - PubMed: Ebermann 2009 Proband - - Canada - - - - - 1 Anne-Françoise Roux
+/+ 20 c.4338_4339del r.(?) p.(Cys1447Glnfs*29) Fibronectin type-III 4 (1367-1462) Unknown - pathogenic g.216363626_216363627del g.216190284_216190285del 4338_4339delCT - USH2A_000007 Heterozygous PubMed: Weston 2000 - rs111033367 Germline - 0/190 controls none - - DNA SEQ - - USH2 - PubMed: Weston 2000 Proband - - France - - - - - 1 Anne-Françoise Roux
+/+ 20 c.4338_4339del r.(?) p.(Cys1447Glnfs*29) Fibronectin type-III 4 (1367-1462) Unknown - pathogenic g.216363626_216363627del g.216190284_216190285del 4338_4339delCT - USH2A_000007 Heterozygous PubMed: Eudy 1998 - rs111033367 Germline - 0/192 controls none - - DNA SEQ - - USH2 - PubMed: Eudy 1998 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 20 c.4338_4339del r.(?) p.(Cys1447Glnfs*29) Fibronectin type-III 4 (1367-1462) Parent #2 - pathogenic g.216363626_216363627del g.216190284_216190285del 4338_4339delCT - USH2A_000007 Heterozygous PubMed: Rivolta 2000 - rs111033367 Germline - - none - - DNA SEQ - - USH2 - PubMed: Rivolta 2000 Proband - Genotype deduced from Sandberg et al., 2008 - - United States - - - - - 1 Anne-Françoise Roux
+/+ 20 c.4338_4339del r.(?) p.(Cys1447Glnfs*29) Fibronectin type-III 4 (1367-1462) Parent #2 - pathogenic g.216363626_216363627del g.216190284_216190285del 4338_4339delCT - USH2A_000007 Heterozygous PubMed: Seyedahmadi 2004 - rs111033367 Germline - - none - - DNA SEQ - - RPar - PubMed: Seyedahmadi 2004 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 20 c.4338_4339del r.(?) p.(Cys1447Glnfs*29) Fibronectin type-III 4 (1367-1462) Parent #2 - pathogenic g.216363626_216363627del g.216190284_216190285del 4338_4339delCT - USH2A_000007 Heterozygous PubMed: Seyedahmadi 2004 - rs111033367 Germline - - none - - DNA SEQ - - RPar - PubMed: Seyedahmadi 2004 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 20 c.4338_4339del r.(?) p.(Cys1447Glnfs*29) Fibronectin type-III 4 (1367-1462) Parent #2 - pathogenic g.216363626_216363627del g.216190284_216190285del 4338_4339delCT - USH2A_000007 Heterozygous PubMed: Seyedahmadi 2004 - rs111033367 Germline - - none - - DNA SEQ - - USH2 - PubMed: Seyedahmadi 2004 Proband - Genotype deduced from Sandberg et al., 2008 - - United States - - - - - 1 Anne-Françoise Roux
+/+ 20 c.4338_4339del r.(?) p.(Cys1447Glnfs*29) Fibronectin type-III 4 (1367-1462) Paternal (inferred) - pathogenic g.216363626_216363627del g.216190284_216190285del 4338_4339delCT - USH2A_000007 Homozygous PubMed: Seyedahmadi 2004 - rs111033367 Germline - - none - - DNA SEQ - - USH2 - PubMed: Seyedahmadi 2004 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 20 c.4338_4339del r.(?) p.(Cys1447Glnfs*29) Fibronectin type-III 4 (1367-1462) Maternal (inferred) - pathogenic g.216363626_216363627del g.216190284_216190285del 4338_4339delCT - USH2A_000007 Homozygous PubMed: Seyedahmadi 2004 - rs111033367 Germline - - none - - DNA SEQ - - USH2 - PubMed: Seyedahmadi 2004 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 20 c.4338_4339del r.(?) p.(Cys1447Glnfs*29) Fibronectin type-III 4 (1367-1462) Unknown - pathogenic g.216363626_216363627del g.216190284_216190285del 4338_4339delCT - USH2A_000007 Heterozygous PubMed: Seyedahmadi 2004 - rs111033367 Germline - - none - - DNA SEQ - - USH2 - PubMed: Seyedahmadi 2004 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 20 c.4338_4339del r.(?) p.(Cys1447Glnfs*29) Fibronectin type-III 4 (1367-1462) Unknown - pathogenic g.216363626_216363627del g.216190284_216190285del 4338_4339delCT - USH2A_000007 Heterozygous PubMed: Seyedahmadi 2004 - rs111033367 Germline - - none - - DNA SEQ - - USH2 - PubMed: Seyedahmadi 2004 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 20 c.4338_4339del r.(?) p.(Cys1447Glnfs*29) Fibronectin type-III 4 (1367-1462) Unknown - pathogenic g.216363626_216363627del g.216190284_216190285del 4338_4339delCT - USH2A_000007 Heterozygous PubMed: Seyedahmadi 2004 - rs111033367 Germline - - none - - DNA SEQ - - USH2 - PubMed: Seyedahmadi 2004 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 20 c.4338_4339del r.(?) p.(Cys1447Glnfs*29) Fibronectin type-III 4 (1367-1462) Unknown - pathogenic g.216363626_216363627del g.216190284_216190285del 4338_4339delCT - USH2A_000007 Heterozygous PubMed: Seyedahmadi 2004 - rs111033367 Germline - - none - - DNA SEQ - - USH2 - PubMed: Seyedahmadi 2004 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 20 c.4338_4339del r.(?) p.(Cys1447Glnfs*29) Fibronectin type-III 4 (1367-1462) Parent #1 - pathogenic g.216363626_216363627del g.216190284_216190285del 4338_4339delCT - USH2A_000007 Heterozygous PubMed: Seyedahmadi 2004 - rs111033367 Germline - - none - - DNA SEQ - - USH2 - PubMed: Seyedahmadi 2004 Proband - Genotype deduced from Sandberg et al., 2008 - - United States - - - - - 1 Anne-Françoise Roux
+/+ 20 c.4338_4339del r.(?) p.(Cys1447Glnfs*29) Fibronectin type-III 4 (1367-1462) Unknown - pathogenic g.216363626_216363627del g.216190284_216190285del 4338_4339delCT - USH2A_000007 Heterozygous PubMed: Seyedahmadi 2004 - rs111033367 Germline - - none - - DNA SEQ - - RPar - PubMed: Seyedahmadi 2004 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 20 c.4338_4339del r.(?) p.(Cys1447Glnfs*29) Fibronectin type-III 4 (1367-1462) Unknown - pathogenic g.216363626_216363627del g.216190284_216190285del 4338_4339delCT - USH2A_000007 Heterozygous PubMed: Seyedahmadi 2004 - rs111033367 Germline - - none - - DNA SEQ - - RPar - PubMed: Seyedahmadi 2004 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 20 c.4338_4339del r.(?) p.(Cys1447Glnfs*29) Fibronectin type-III 4 (1367-1462) Unknown - pathogenic g.216363626_216363627del g.216190284_216190285del 4338_4339delCT - USH2A_000007 Heterozygous PubMed: Seyedahmadi 2004 - rs111033367 Germline - - none - - DNA SEQ - - RPar - PubMed: Seyedahmadi 2004 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 20 c.4338_4339del r.(?) p.(Cys1447Glnfs*29) Fibronectin type-III 4 (1367-1462) Unknown - pathogenic g.216363626_216363627del g.216190284_216190285del 4338_4339delCT - USH2A_000007 Heterozygous PubMed: Seyedahmadi 2004 - rs111033367 Germline - - none - - DNA SEQ - - RPar - PubMed: Seyedahmadi 2004 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 20 c.4338_4339del r.(?) p.(Cys1447Glnfs*29) Fibronectin type-III 4 (1367-1462) Unknown - pathogenic g.216363626_216363627del g.216190284_216190285del 4338_4339delCT - USH2A_000007 Heterozygous PubMed: Seyedahmadi 2004 - rs111033367 Germline - - none - - DNA SEQ - - RPar - PubMed: Seyedahmadi 2004 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 20 c.4338_4339del r.(?) p.(Cys1447Glnfs*29) Fibronectin type-III 4 (1367-1462) Parent #2 - pathogenic g.216363626_216363627del g.216190284_216190285del 4338_4339delCT - USH2A_000007 Heterozygous PubMed: Rivolta 2000 - rs111033367 Germline - - none - - DNA SEQ - - RPar - PubMed: Rivolta 2000 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 20 c.4338_4339del r.(?) p.(Cys1447Glnfs*29) Fibronectin type-III 4 (1367-1462) Paternal (inferred) - pathogenic g.216363626_216363627del g.216190284_216190285del 4338_4339delCT - USH2A_000007 Homozygous PubMed: Ebermann 2010 - rs111033367 Germline - 0/207 controls none - - DNA SEQ - - USH2 - PubMed: Ebermann 2010 Relative F - Canada - - - - - 1 Anne-Françoise Roux
+/+ 20 c.4338_4339del r.(?) p.(Cys1447Glnfs*29) Fibronectin type-III 4 (1367-1462) Maternal (inferred) - pathogenic g.216363626_216363627del g.216190284_216190285del 4338_4339delCT - USH2A_000007 Homozygous PubMed: Ebermann 2010 - rs111033367 Germline - 0/207 controls none - - DNA SEQ - - USH2 - PubMed: Ebermann 2010 Relative F - Canada - - - - - 1 Anne-Françoise Roux
+/+ 20 c.4338_4339del r.(?) p.(Cys1447Glnfs*29) Fibronectin type-III 4 (1367-1462) Parent #2 - pathogenic g.216363626_216363627del g.216190284_216190285del 4338_4339delCT - USH2A_000007 Heterozygous PubMed: Sandberg 2008 - rs111033367 Germline - - none - - DNA SEQ - - ? - PubMed: Sandberg 2008 Proband - USH2 or ARRP - - United States - - - - - 1 Anne-Françoise Roux
+/+ 20 c.4338_4339del r.(?) p.(Cys1447Glnfs*29) Fibronectin type-III 4 (1367-1462) Parent #2 - pathogenic g.216363626_216363627del g.216190284_216190285del 4338_4339delCT - USH2A_000007 Heterozygous PubMed: Sandberg 2008 - rs111033367 Germline - - none - - DNA SEQ - - ? - PubMed: Sandberg 2008 Relative - deduced from Sandberg et al., 2008 - - United States - - - - - 1 Anne-Françoise Roux
+/+ 20 c.4338_4339del r.(?) p.(Cys1447Glnfs*29) Fibronectin type-III 4 (1367-1462) Parent #2 - pathogenic g.216363626_216363627del g.216190284_216190285del 4338_4339delCT - USH2A_000007 Heterozygous PubMed: Sandberg 2008 - rs111033367 Germline - - none - - DNA SEQ - - ? - PubMed: Sandberg 2008 Relative - deduced from Sandberg et al., 2008 - - United States - - - - - 1 Anne-Françoise Roux
+/+ 20 c.4338_4339del r.(?) p.(Cys1447Glnfs*29) Fibronectin type-III 4 (1367-1462) Unknown - pathogenic g.216363626_216363627del g.216190284_216190285del 4338delCT - USH2A_000007 Homozygous PubMed: Kimberling 2010 - rs111033367 Germline - - none - - DNA SEQ - - USH2 - PubMed: Kimberling 2010 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/. - c.4338_4339del r.(?) p.(Cys1447Glnfs*29) - Parent #1 - pathogenic (recessive) g.216363622_216363623del - - - USH2A_000007 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES HL HL016 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - - - - 1 Johan den Dunnen
+?/. - c.4338_4339del r.(?) p.(Cys1447Glnfs*29) - Unknown - likely pathogenic g.216363626_216363627del g.216190284_216190285del p.C759F:c.2276G/T, c.4338_4339het_delCT(alleles in trans) - USH2A_000007 - PubMed: Hariri 2018 - - Germline ? - - - - DNA SEQ - retrospective analysis retinal disease - PubMed: Hariri 2018 - ? - - - - - - - 1 LOVD
+/. - c.4338_4339del r.(?) p.(Cys1447GlnfsTer29) - Unknown ACMG pathogenic g.216363626_216363627del g.216190284_216190285del 4338_4339delCT - USH2A_000007 ACMG GN005 criteria: PVS1_VS PM2_P PM3_P PubMed: Wafa, T. T. et al., 2021 - rs111033367 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 20 c.4338_4339delCT r.(?) p.(Cys1447Glnfs*29) - Both (homozygous) - likely pathogenic g.216363622_216363623del - c.4338-4339delCT, p.C1447Qfs*29 - USH2A_000007 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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