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     
+/. 2i c.(154+1::155-1) r.0 p.0 - pathogenic g.(67518939_67652708)_qterdelins[NC_000012.11:(67700000_71500000)_qter] - - t(X;12)(q11;q15) OPHN1_000000 t(X;12) balanced translocation PubMed: Bienvenu 1997, PubMed: Billuart 1998, Journal: Billuart 1998 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
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