Variant #0000510054 (NC_000002.11:g.167160735A>G, SCN9A(NM_002977.3):c.688+13T>C)

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.167160735A>G
DNA change (hg38) g.166304225A>G
Published as SCN9A(NM_002977.3):c.688+13T>C
ISCN -
DB-ID SCN9A_000080 See all 2 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) 0.04797 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.688+13T>C r.(=) p.(=) -