Variant #0000717964 (NC_000002.11:g.167162340G>T, SCN9A(NM_002977.3):c.558C>A)

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.167162340G>T
DNA change (hg38) -
Published as SCN9A(NM_002977.3):c.558C>A (p.D186E)
ISCN -
DB-ID SCN9A_000290
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) Variant not found in online data sets
Owner VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
SCN9A NM_002977.3 ?/. - c.558C>A r.(?) p.(Asp186Glu) -