Variant #0000351760 (NC_000002.11:g.167160789A>G, SCN9A(NM_002977.3):c.647T>C)

Individual ID 00152064
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.167160789A>G
DNA change (hg38) g.166304279A>G
Published as -
ISCN -
DB-ID SCN9A_000017
Variant remarks -
Reference PubMed: Drenth 2005
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 +/. 6 c.647T>C r.(?) p.(Phe216Ser) D1/S4



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000152921 DNA SEQ - - SCN9A 1 Christoph Lossin