Full data view for gene SCN9A

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

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

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     
-/. - c.1119T>C r.(=) p.(=) - Parent #1 - benign g.167145142A>G g.166288632A>G - - SCN9A_000023 - - - rs13414203 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.1119T>C r.(?) p.(Ala373=) - Unknown - benign g.167145142A>G g.166288632A>G SCN1A-AS1(NR_110260.1):n.1030-5933A>G, SCN9A(NM_002977.3):c.1119T>C (p.A373=) - SCN9A_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1119T>C r.(?) p.(Ala373=) - Unknown - benign g.167145142A>G g.166288632A>G SCN1A-AS1(NR_110260.1):n.1030-5933A>G, SCN9A(NM_002977.3):c.1119T>C (p.A373=) - SCN9A_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 10 c.1119T>C r.(?) p.(=) P1 Unknown - VUS g.167145142A>G g.166288632A>G A373A - SCN9A_000023 - PubMed: Drenth 2005 - rs13414203 Germline - - - 0 - DNA SEQ - - erythromelalgia, primary - PubMed: Drenth 2005 - - - - - - 0 - - 1 Christoph Lossin
Legend   How to query