Variant #0000295692 (NC_000002.11:g.167163043T>C, SCN9A(NM_002977.3):c.444A>G)

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.167163043T>C
DNA change (hg38) g.166306533T>C
Published as SCN9A(NM_002977.3):c.444A>G (p.P148=, p.=)
ISCN -
DB-ID SCN9A_000009 See all 5 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.62838 View details
Owner VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
SCN9A NM_002977.3 -/. - c.444A>G r.(?) p.(Pro148=) -