Variant #0000351763 (NC_000002.11:g.167144974A>T, SCN9A(NM_002977.3):c.1287T>A)

Individual ID 00152067
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.167144974A>T
DNA change (hg38) g.166288464A>T
Published as R429R
ISCN -
DB-ID SCN9A_000026 See all 4 reported entries
Variant remarks -
Reference PubMed: Drenth 2005
ClinVar ID -
dbSNP ID rs6747673
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.49323 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.1287T>A r.(?) p.(=) L1



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000152924 DNA SEQ - - SCN9A 1 Christoph Lossin