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.

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/+ 2 c.72T>G r.(?) p.(Tyr24*) Signal peptide (1-31) Paternal (inferred) - pathogenic g.216595607A>C g.216422265A>C - - USH2A_000734 Homozygous PubMed: Baux 2014 - - Germline - - +BfaI 0 - DNA SEQ - - USH-2 - PubMed: Baux 2014 Proband M - France - - 0 - - 1 Anne-Françoise Roux
+/+ 2 c.72T>G r.(?) p.(Tyr24*) Signal peptide (1-31) Maternal (inferred) - pathogenic g.216595607A>C g.216422265A>C - - USH2A_000734 Homozygous PubMed: Baux 2014 - - Germline - - +BfaI 0 - DNA SEQ - - USH-2 - PubMed: Baux 2014 Proband M - France - - 0 - - 1 Anne-Françoise Roux
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