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.
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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     
-/. - c.1266A>G r.(=) p.(=) - Parent #1 - benign g.167144995T>C g.166288485T>C - - SCN9A_000025 - - - rs13402180 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.1266A>G r.(?) p.(Glu422=) - Unknown - benign g.167144995T>C g.166288485T>C SCN1A-AS1(NR_110260.1):n.1030-6080T>C, SCN9A(NM_002977.3):c.1266A>G (p.E422=) - SCN9A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1266A>G r.(?) p.(Glu422=) - Unknown - benign g.167144995T>C g.166288485T>C SCN1A-AS1(NR_110260.1):n.1030-6080T>C, SCN9A(NM_002977.3):c.1266A>G (p.E422=) - SCN9A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 10 c.1266A>G r.(?) p.(=) L1 Unknown - VUS g.167144995T>C g.166288485T>C E422E - SCN9A_000025 - PubMed: Drenth 2005 - rs13402180 Germline - - - 0 - DNA SEQ - - erythromelalgia, primary - PubMed: Drenth 2005 - - - - - - 0 - - 1 Christoph Lossin
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