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.

5 entries on 1 page. Showing entries 1 - 5.
Legend   How to query  

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     
+/+ 63 c.13207_13208del r.(?) p.(Gly4403Profs*15) Fibronectin type-III 29 (4356-4439) Paternal (confirmed) - pathogenic g.215848046_215848047del g.215674704_215674705del 13207_13208delGG - USH2A_000126 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - - Germline - 0/878 controls -BstNI;-Sau96I;-StyD4I;-BssKI;-PspGI;-AlwNI; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 63 c.13207_13208del r.(?) p.(Gly4403Profs*15) Fibronectin type-III 29 (4356-4439) Paternal (confirmed) - pathogenic g.215848046_215848047del g.215674704_215674705del 13207_13208delGG - USH2A_000126 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - - Germline - 0/878 controls -BstNI;-Sau96I;-StyD4I;-BssKI;-PspGI;-AlwNI; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 63 c.13207_13208del r.(?) p.(Gly4403Profs*15) Fibronectin type-III 29 (4356-4439) Unknown - pathogenic g.215848046_215848047del g.215674704_215674705del 13207_13208delGG - USH2A_000126 Heterozygous PubMed: Baux 2007 - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
+?/. - c.13207_13208del r.(?) p.(Gly4403Profs*15) - Parent #1 - likely pathogenic (recessive) g.215848046_215848047del g.215674704_215674705del - - USH2A_000126 - PubMed: Bryant 2018 - rs746447649 Germline - - - - - DNA SEQ-NG - WES retinal disease JB252 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
+/. - c.13207_13208del r.(?) p.(Gly4403ProfsTer15) - Unknown ACMG pathogenic g.215848046_215848047del g.215674704_215674705del 13207_13208delGG - USH2A_000126 ACMG GN005 criteria: PVS1_VS PM2_P PM3_M PubMed: Le Quesne Stabej, P. et al., 2012; PubMed: Ganapathi, M. et al., 2022; PubMed: Wafa, T. T. et al., 2021; PubMed: Mansard, L. et al., 2021 - rs746447649 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  

All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.