All variants in the SCN9A gene

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

6 entries on 1 page. Showing entries 1 - 6.
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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.554G>A r.(?) p.(Arg185His) - - benign g.167162344C>T g.166305834C>T SCN9A(NM_002977.3):c.554G>A (p.R185H) - SCN9A_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.554G>A r.(?) p.(Arg185His) - - benign g.167162344C>T g.166305834C>T SCN9A(NM_002977.3):c.554G>A (p.R185H) - SCN9A_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.554G>A r.(?) p.(Arg185His) - - benign g.167162344C>T g.166305834C>T SCN9A(NM_002977.3):c.554G>A (p.R185H) - SCN9A_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.554G>A r.(?) p.(Arg185His) - - VUS g.167162344C>T g.166305834C>T SCN9A(NM_002977.3):c.554G>A (p.R185H) - SCN9A_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.554G>A r.(?) p.(Arg185His) - - likely benign g.167162344C>T g.166305834C>T - - SCN9A_000150 8 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs73969684 Germline - 8/2795 individuals - 0 - Mohammed Faruq
-?/. - c.554G>A r.(?) p.(Arg185His) - - likely benign g.167162344C>T g.166305834C>T - - SCN9A_000150 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.023 - 0 - Global Variome, with Curator vacancy
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