All variants in the SCN9A gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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.1846G>A r.(?) p.(Gly616Arg) - - VUS g.167141091C>T g.166284581C>T - - SCN9A_000031 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs201338643 Germline - 1/194 cases RE - 0 - Dheeraj Bobbili
+/. 12 c.1846G>A r.(?) p.(Gly616Arg) L1 - pathogenic g.167141091C>T g.166284581C>T - - SCN9A_000031 - PubMed: Choi 2010 - - Germline - - - 0 - Christoph Lossin
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