Variant #0000301963 (NC_000002.11:g.167145106C>A, SCN9A(NM_002977.3):c.1155G>T)

Chromosome 2
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.167145106C>A
DNA change (hg38) g.166288596C>A
Published as SCN9A(NM_002977.3):c.1155G>T (p.V385=)
ISCN -
DB-ID SCN9A_000147 See all 3 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID rs58465962
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.01494 View details
Owner VKGL-NL_Utrecht
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
SCN9A NM_002977.3 -/. - c.1155G>T r.(?) p.(Val385=) -