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     
+?/. - c.4G>C r.(?) p.(Gly2Arg) - likely pathogenic g.67652859C>G g.68433017C>G NM_002547.2:c.4G>C; p.Gly2Arg - OPHN1_000100 - PubMed: Nair 2018 - rs1200813419 Unknown ? - - 0 - LOVD
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