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     
?/? 22 c.2168A>G r.(?) p.(Asp723Gly) - VUS g.67273643T>C g.68053801T>C - - OPHN1_000003 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - Lucy Raymond
-?/. - c.2168A>G r.(?) p.(Asp723Gly) - likely benign g.67273643T>C - OPHN1(NM_002547.2):c.2168A>G (p.D723G) - OPHN1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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