All variants in the USH2A gene


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.

8 entries on 1 page. Showing entries 1 - 8.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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     

Owner     
-/- _1 c.-2202C>T r.(=) p.(=) - - benign g.216598553G>A g.216425211G>A - - USH2A_000806 Homozygous PubMed: Baux 2014 - rs4323773 Germline - - - 0 - Anne-Françoise Roux
-/- _1 c.-2202C>T r.(=) p.(=) - - benign g.216598553G>A g.216425211G>A - - USH2A_000806 Homozygous PubMed: Baux 2014 - rs4323773 Germline - - - 0 - Anne-Françoise Roux
-/- _1 c.-2202C>T r.(=) p.(=) - - benign g.216598553G>A g.216425211G>A - - USH2A_000806 Homozygous PubMed: Baux 2014 - rs4323773 Germline - - - 0 - Anne-Françoise Roux
-/- _1 c.-2202C>T r.(=) p.(=) - - benign g.216598553G>A g.216425211G>A - - USH2A_000806 Homozygous PubMed: Baux 2014 - rs4323773 Germline - - - 0 - Anne-Françoise Roux
-/- _1 c.-2202C>T r.(=) p.(=) - - benign g.216598553G>A g.216425211G>A - - USH2A_000806 Homozygous PubMed: Baux 2014 - rs4323773 Germline - - - 0 - Anne-Françoise Roux
-/- _1 c.-2202C>T r.(=) p.(=) - - benign g.216598553G>A g.216425211G>A - - USH2A_000806 Homozygous PubMed: Baux 2014 - rs4323773 Germline - - - 0 - Anne-Françoise Roux
-/- _1 c.-2202C>T r.(=) p.(=) - - benign g.216598553G>A g.216425211G>A - - USH2A_000806 Homozygous PubMed: Baux 2014 - rs4323773 Germline - - - 0 - Anne-Françoise Roux
-/- _1 c.-2202C>T r.(=) p.(=) - - benign g.216598553G>A g.216425211G>A - - USH2A_000806 Homozygous PubMed: Baux 2014 - rs4323773 Germline - - - 0 - Anne-Françoise Roux
Legend   How to query