Variant #0000351756 (NC_000002.11:g.167145076G>T, SCN9A(NM_002977.3):c.1185C>A)

Individual ID 00152060
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.167145076G>T
DNA change (hg38) g.166288566G>T
Published as N395K
ISCN -
DB-ID SCN9A_000024
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 +/. 10 c.1185C>A r.(?) p.(Asn395Lys) D1/S6



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000152917 DNA SEQ - - SCN9A 1 Christoph Lossin