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.638T>C r.(?) p.(Leu213Pro) ACMG likely pathogenic g.67432014A>G g.68212172A>G - - OPHN1_000098 ACMG PM1, PM2, PP2, PP3 PubMed: Anazi 2017 - - Germline - - - 0 - Johan den Dunnen
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