All variants in the OPHN1 gene

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

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     
+/. 18 c.1489C>T r.(?) p.(Arg497*) - pathogenic g.67331733G>A g.68111891G>A - - OPHN1_000005 - PubMed: Tzschach 2015 - - Germline ? - - 0 - Andreas Tzschach
+?/. - c.1489C>T r.(?) p.(Arg497*) - likely pathogenic g.67331733G>A g.68111891G>A - - OPHN1_000005 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
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