Variant #0000351771 (NC_000002.11:g.167143072G>C, SCN9A(NM_002977.3):c.1376C>G)

Individual ID 00152075
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.167143072G>C
DNA change (hg38) g.166286562G>C
Published as S459X
ISCN -
DB-ID SCN9A_000027 See all 3 reported entries
Variant remarks -
Reference PubMed: Cox 2006
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Christoph Lossin
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
SCN9A NM_002977.3 +/. 11 c.1376C>G r.(?) p.(Ser459*) L1



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000152932 DNA SEQ - - SCN9A 1 Christoph Lossin