Variant #0000307836 (NC_000002.11:g.167159786T>C, SCN9A(NM_002977.3):c.715A>G)

Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.167159786T>C
DNA change (hg38) g.166303276T>C
Published as SCN9A(NM_002977.3):c.715A>G (p.I239V)
ISCN -
DB-ID SCN9A_000149
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
SCN9A NM_002977.3 ?/. - c.715A>G r.(?) p.(Ile239Val) -