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     
+/. 13 c.1964A>G r.(?) p.(Lys655Arg) L1 - pathogenic g.167138296T>C g.166281786T>C - - SCN9A_000033 - PubMed: Singh 2009 - - Germline - - - 0 - Christoph Lossin
+/. 13 c.1964A>G r.(?) p.(Lys655Arg) L1 - pathogenic g.167138296T>C g.166281786T>C - - SCN9A_000033 - PubMed: Singh 2009 - - Germline - - - 0 - Christoph Lossin
-?/. - c.1964A>G r.(?) p.(Lys655Arg) - - likely benign g.167138296T>C g.166281786T>C SCN9A(NM_002977.3):c.1964A>G (p.K655R) - SCN9A_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1964A>G r.(?) p.(Lys655Arg) - - likely benign g.167138296T>C g.166281786T>C SCN9A(NM_002977.3):c.1964A>G (p.K655R) - SCN9A_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1964A>G r.(?) p.(Lys655Arg) - - likely benign g.167138296T>C - SCN9A(NM_002977.3):c.1964A>G (p.K655R) - SCN9A_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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