Variant #0000510060 (NC_000002.11:g.167162344C>T, SCN9A(NM_002977.3):c.554G>A)

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.167162344C>T
DNA change (hg38) g.166305834C>T
Published as SCN9A(NM_002977.3):c.554G>A (p.R185H)
ISCN -
DB-ID SCN9A_000150 See all 6 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00285 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.554G>A r.(?) p.(Arg185His) -