All variants in the OPHN1 gene

Information The variants shown are described using the NM_002547.2 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     
+/. 3 c.184C>T r.(?) p.(Gln62*) - pathogenic g.67518909G>A g.68299067G>A C>T ex3 (Q62X) - OPHN1_000013 - PubMed: Philip 2003, Journal: Philip 2003, OMIM:var0002 - - Unknown - - - 0 - Johan den Dunnen
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