Full data view for gene SCN9A

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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 11 c.1376C>G r.(?) p.(Ser459*) L1 Unknown - pathogenic g.167143072G>C g.166286562G>C S459X - SCN9A_000027 - PubMed: Cox 2006 - - Germline - - - 0 - DNA SEQ - - CIP - PubMed: Cox 2006 - - - - - - 0 - - 1 Christoph Lossin
+/. - c.1376C>G r.(?) p.(Ser459*) - Unknown - pathogenic (recessive) g.167143072G>C g.166286562G>C - - SCN9A_000027 - PubMed: Antoniadi 2015 - rs121908908 Germline - - - 0 - DNA SEQ - 56-gene neuropathy panel neuropathy Pat-SCN9A-a PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.1376C>G r.(?) p.(Ser459*) - Unknown - pathogenic (recessive) g.167143072G>C g.166286562G>C - - SCN9A_000027 - PubMed: Antoniadi 2015 - rs121908908 Germline - - - 0 - DNA SEQ - 56-gene neuropathy panel neuropathy Pat-SCN9A-b PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
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