All variants in the SCN9A gene

Information The variants shown are described using the NM_002977.3 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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.1469G>A r.(?) p.(Ser490Asn) - - benign g.167142979C>T g.166286469C>T SCN9A(NM_002977.3):c.1469G>A (p.S490N) - SCN9A_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1469G>A r.(?) p.(Ser490Asn) - - benign g.167142979C>T g.166286469C>T SCN9A(NM_002977.3):c.1469G>A (p.S490N) - SCN9A_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1469G>A r.(?) p.(Ser490Asn) - - benign g.167142979C>T g.166286469C>T SCN9A(NM_002977.3):c.1469G>A (p.S490N) - SCN9A_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. 11 c.1469G>A r.(?) p.(Ser490Asn) L1 - pathogenic g.167142979C>T g.166286469C>T - - SCN9A_000028 - PubMed: Singh 2009 - - Germline - - - 0 - Christoph Lossin
-/. - c.1469G>A r.(?) p.(Ser490Asn) - - benign g.167142979C>T g.166286469C>T SCN9A(NM_002977.3):c.1469G>A (p.S490N) - SCN9A_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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