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     
+/. 19 c.1579del r.(?) p.(Ile527Serfs*6) - pathogenic g.67316820del g.68096978del 1578del - OPHN1_000010 mRNA hardly detectable (NMD); variant not in 100 control chromosomes PubMed: Billuart 1998, Journal: Billuart 1998, OMIM:var0001 - - Germline yes - - 0 - Johan den Dunnen
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