Variant #0000245953 (NC_000002.11:g.167168138A>G, SCN9A(NM_002977.3):c.129T>C)

Chromosome 2
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.167168138A>G
DNA change (hg38) g.166311628A>G
Published as SCN9A(NM_002977.3):c.129T>C (p.D43=, p.=)
ISCN -
DB-ID SCN9A_000170 See all 3 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) 0.0004 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.129T>C r.(?) p.(Asp43=) -