Variant #0000684741 (NC_000002.11:g.167162344C>T, SCN9A(NM_002977.3):c.554G>A)

Individual ID 00308694
Chromosome 2
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.167162344C>T
DNA change (hg38) g.166305834C>T
Published as -
ISCN -
DB-ID SCN9A_000150 See all 6 reported entries
Variant remarks classification based on frequency in 305 unrelated individuals
Reference PubMed: Le 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency frequency 0.023
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00285 View details
Owner Global Variome, with Curator vacancy
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
SCN9A NM_002977.3 -?/. - c.554G>A r.(?) p.(Arg185His) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000309839 DNA SEQ;SEQ-NG - 105 WGS/200 WES SCN9A 1 Global Variome, with Curator vacancy