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.

23 entries on 1 page. Showing entries 1 - 23.
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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.11677C>A r.(?) p.(Pro3893Thr) - Unknown - benign g.215914751G>T g.215741409G>T USH2A(NM_206933.4):c.11677C>A (p.P3893T) - USH2A_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 60 c.11677C>A r.(?) p.(Pro3893Thr) Fibronectin type-III 24 (3863-3960) Parent #2 - benign g.215914751G>T g.215741409G>T - - USH2A_000052 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs41303285 Germline - - - - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11677C>A r.(?) p.(Pro3893Thr) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914751G>T g.215741409G>T - - USH2A_000052 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs41303285 Germline - - - - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - Romania - - - - - 1 Anne-Françoise Roux
-/- 60 c.11677C>A r.(?) p.(Pro3893Thr) Fibronectin type-III 24 (3863-3960) Parent #2 - benign g.215914751G>T g.215741409G>T - - USH2A_000052 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs41303285 Germline - - - - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11677C>A r.(?) p.(Pro3893Thr) Fibronectin type-III 24 (3863-3960) Parent #1 - benign g.215914751G>T g.215741409G>T - - USH2A_000052 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs41303285 Germline - - - - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11677C>A r.(?) p.(Pro3893Thr) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914751G>T g.215741409G>T - - USH2A_000052 Heterozygous PubMed: Le Guédard-Méreuze 2010, USMA missense analysis, missense variant in MSV3d - rs41303285 Germline - - - - - DNA minigene, SEQ - - USH2 - PubMed: Le Guédard-Méreuze 2010 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11677C>A r.(?) p.(Pro3893Thr) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914751G>T g.215741409G>T - - USH2A_000052 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41303285 Germline - - - - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11677C>A r.(?) p.(Pro3893Thr) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914751G>T g.215741409G>T - - USH2A_000052 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41303285 Germline - - - - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11677C>A r.(?) p.(Pro3893Thr) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914751G>T g.215741409G>T - - USH2A_000052 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41303285 Germline - - - - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Italy - - - - - 1 Anne-Françoise Roux
-/- 60 c.11677C>A r.(?) p.(Pro3893Thr) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914751G>T g.215741409G>T - - USH2A_000052 Heterozygous PubMed: Le Guédard-Méreuze 2010, USMA missense analysis, missense variant in MSV3d - rs41303285 Germline - - - - - DNA minigene, SEQ - - USH2 - PubMed: Le Guédard-Méreuze 2010 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11677C>A r.(?) p.(Pro3893Thr) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914751G>T g.215741409G>T - - USH2A_000052 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41303285 Germline - - - - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11677C>A r.(?) p.(Pro3893Thr) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914751G>T g.215741409G>T - - USH2A_000052 Heterozygous; unknown PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs41303285 Germline - - - - - DNA SEQ - - USH2 - PubMed: McGee 2010 Proband - No genotype in the publication - - United States - - - - - 5 Anne-Françoise Roux
-/- 60 c.11677C>A r.(?) p.(Pro3893Thr) Fibronectin type-III 24 (3863-3960) Paternal (inferred) - benign g.215914751G>T g.215741409G>T - - USH2A_000052 Homozygous; unknown PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs41303285 Germline - - - - - DNA SEQ - - RPar - PubMed: McGee 2010 Proband - No genotype in the publication - - United States - - - - - 1 Anne-Françoise Roux
-/- 60 c.11677C>A r.(?) p.(Pro3893Thr) Fibronectin type-III 24 (3863-3960) Maternal (inferred) - benign g.215914751G>T g.215741409G>T - - USH2A_000052 Homozygous; unknown PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs41303285 Germline - - - - - DNA SEQ - - RPar - PubMed: McGee 2010 Proband - No genotype in the publication - - United States - - - - - 1 Anne-Françoise Roux
-/- 60 c.11677C>A r.(?) p.(Pro3893Thr) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914751G>T g.215741409G>T - - USH2A_000052 Heterozygous; unknown PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs41303285 Germline - - - - - DNA SEQ - - RPar - PubMed: McGee 2010 Proband - No genotype in the publication - - United States - - - - - 2 Anne-Françoise Roux
-/- 60 c.11677C>A r.(?) p.(Pro3893Thr) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914751G>T g.215741409G>T - - USH2A_000052 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41303285 Germline - - - - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Algeria - - - - - 1 Anne-Françoise Roux
-/- 60 c.11677C>A r.(?) p.(Pro3893Thr) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914751G>T g.215741409G>T - - USH2A_000052 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41303285 Germline - - - - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11677C>A r.(?) p.(Pro3893Thr) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914751G>T g.215741409G>T - - USH2A_000052 Heterozygous PubMed: Vaché 2012, USMA missense analysis, missense variant in MSV3d - rs41303285 Germline - - - - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband F - France - - - - - 1 Jose Maria Millan
-/- 60 c.11677C>A r.(?) p.(Pro3893Thr) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914751G>T g.215741409G>T - - USH2A_000052 Heterozygous; Neutral PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs41303285 Germline - - - - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 60 c.11677C>A r.(?) p.(Pro3893Thr) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914751G>T g.215741409G>T - - USH2A_000052 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41303285 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Baux 2014 Proband F - - - - - - - 1 Anne-Françoise Roux
-/- 60 c.11677C>A r.(?) p.(Pro3893Thr) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914751G>T g.215741409G>T - - USH2A_000052 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41303285 Germline - - - - - DNA SEQ - - USH3 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-?/. - c.11677C>A r.(?) p.(Pro3893Thr) - Unknown - likely benign g.215914751G>T g.215741409G>T USH2A(NM_206933.4):c.11677C>A (p.P3893T) - USH2A_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.11677C>A r.(?) p.(Pro3893Thr) - Parent #1 - benign g.215914751G>T g.215741409G>T - - USH2A_000052 56 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41303285 Germline - 56/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 56 Mohammed Faruq
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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