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)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

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Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

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Disease     

ID_report     

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Remarks     

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VIP     

Data_av     

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Panel size     

Owner     
+/. 22i c.22+3A>G r.spl? p.(Gly9=) - Parent #2 - pathogenic g.216595654C= g.216422312C= USH2A c.22+3A>G, - - USH2A_002496 heterozygous PubMed: Qu 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood 103 known RD genes panel retinal disease RP F2-II-1 PubMed: Qu 2020 - F - - - - - - - 1 LOVD
+/. 22i c.22+3A>G r.spl? p.(Gly9=) - Maternal (confirmed) - pathogenic g.216595654C= g.216422312C= USH2A c.22+3A>G, - - USH2A_002496 heterozygous PubMed: Qu 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood 103 known RD genes panel retinal disease RP F5-II-2 PubMed: Qu 2020 - M - - - - - - - 1 LOVD
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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