All variants in the SCN9A gene

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

7 entries on 1 page. Showing entries 1 - 7.
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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.1828C>A r.(?) p.(Pro610Thr) - - benign g.167141109G>T g.166284599G>T - - SCN9A_000030 - - - rs41268673 Germline - - - 0 - Andreas Laner
-/. - c.1828C>A r.(?) p.(Pro610Thr) - - benign g.167141109G>T g.166284599G>T SCN9A(NM_002977.3):c.1828C>A (p.P610T) - SCN9A_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.1828C>A r.(?) p.(Pro610Thr) - - likely benign g.167141109G>T g.166284599G>T SCN9A(NM_002977.3):c.1828C>A (p.P610T) - SCN9A_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. 12 c.1828C>A r.(?) p.(Pro610Thr) L1 - pathogenic g.167141109G>T g.166284599G>T - - SCN9A_000030 - PubMed: Drenth 2005 - - Germline - - - 0 - Christoph Lossin
-/. - c.1828C>A r.(?) p.(Pro610Thr) - - benign g.167141109G>T g.166284599G>T SCN9A(NM_002977.3):c.1828C>A (p.P610T) - SCN9A_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1828C>A r.(?) p.(Pro610Thr) - - likely benign g.167141109G>T g.166284599G>T - - SCN9A_000030 60 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41268673 Germline - 60/2795 individuals - 0 - Mohammed Faruq
-?/. - c.1828C>A r.(?) p.(Pro610Thr) - - likely benign g.167141109G>T g.166284599G>T - - SCN9A_000030 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41268673 Germline - 1/2795 individuals - 0 - Mohammed Faruq
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