All variants in the SCN9A gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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.1555G>A r.(?) p.(Glu519Lys) - - VUS g.167142893C>T g.166286383C>T - - SCN9A_000029 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs187453572 Germline - 1/567 controls - 0 - Dheeraj Bobbili
+/. 11 c.1555G>A r.(?) p.(Glu519Lys) L1 - pathogenic g.167142893C>T g.166286383C>T - - SCN9A_000029 - PubMed: Singh 2009 - - Germline - - - 0 - Christoph Lossin
?/. - c.1555G>A r.(?) p.(Glu519Lys) - - VUS g.167142893C>T g.166286383C>T - - SCN9A_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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