All variants in the SCN9A gene

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

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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.2026_2029del r.(?) p.Gln676Glufs*3 - ACMG likely pathogenic g.167138235_167138238del g.166281725_166281728del - - SCN9A_000171 no second variant deceted in SCN9A, LOF variants in SCN9A follow a recessive mode of inheritance - - - Germline - - - 0 - Andreas Laner
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