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.

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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     
+/+ 4 c.781_784+1375del r.spl? p.? - - pathogenic g.216536924_216538302del g.216363582_216364960del - - USH2A_000799 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - - Germline - - - 0 - Maria Bitner-Glindzicz
+?/. - c.781_784+1375del r.spl p.? - - likely pathogenic g.216536924_216538302del g.216363582_216364960del 781_c784+1375del1379ttaAATG… - USH2A_000799 - PubMed: Stone 2017 - - Germline - - - 0 - -
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