Variant #0000351761 (NC_000002.11:g.167144995T>C, SCN9A(NM_002977.3):c.1266A>G)

Individual ID 00152065
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.167144995T>C
DNA change (hg38) g.166288485T>C
Published as E422E
ISCN -
DB-ID SCN9A_000025 See all 4 reported entries
Variant remarks -
Reference PubMed: Drenth 2005
ClinVar ID -
dbSNP ID rs13402180
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.36782 View details
Owner Christoph Lossin
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
SCN9A NM_002977.3 ?/. 10 c.1266A>G r.(?) p.(=) L1



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000152922 DNA SEQ - - SCN9A 1 Christoph Lossin