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     
-?/. - c.300T>C r.(?) p.(Leu100=) - - likely benign g.216595379A>G g.216422037A>G USH2A(NM_206933.2):c.300T>C (p.L100=) - USH2A_001679 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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