All variants in the OPHN1 gene

Information The variants shown are described using the NM_002547.2 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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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.902C>T r.(?) p.(Thr301Met) - likely benign g.67426446G>A g.68206604G>A OPHN1(NM_002547.2):c.902C>T (p.T301M, p.(Thr301Met)), OPHN1(NM_002547.3):c.902C>T (p.T301M) - OPHN1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.902C>T r.(?) p.(Thr301Met) - likely benign g.67426446G>A g.68206604G>A OPHN1(NM_002547.2):c.902C>T (p.T301M, p.(Thr301Met)), OPHN1(NM_002547.3):c.902C>T (p.T301M) - OPHN1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.902C>T r.(?) p.(Thr301Met) - likely benign g.67426446G>A g.68206604G>A OPHN1(NM_002547.2):c.902C>T (p.T301M, p.(Thr301Met)), OPHN1(NM_002547.3):c.902C>T (p.T301M) - OPHN1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.902C>T r.(?) p.(Thr301Met) - likely benign g.67426446G>A g.68206604G>A OPHN1(NM_002547.2):c.902C>T (p.T301M, p.(Thr301Met)), OPHN1(NM_002547.3):c.902C>T (p.T301M) - OPHN1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
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