Variant #0000351751 (NC_000002.11:g.167162277G>A, SCN9A(NM_002977.3):c.596+25C>T)

Individual ID 00152055
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.167162277G>A
DNA change (hg38) g.166305767G>A
Published as -
ISCN -
DB-ID SCN9A_000003 See all 2 reported entries
Variant remarks -
Reference Lossin, unpublished data
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.71216 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 ?/. 5i c.596+25C>T r.(=) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000152912 DNA SEQ - - SCN9A 1 Christoph Lossin