Variant #0000650199 (NC_000002.11:g.167145152G>A, SCN9A(NM_002977.3):c.1109C>T)

Individual ID 00292342
Chromosome 2
Allele Parent #1
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.167145152G>A
DNA change (hg38) g.166288642G>A
Published as -
ISCN -
DB-ID SCN9A_000251
Variant remarks 1 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs200391162
Origin Germline
Segregation -
Frequency 1/2794 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00039 View details
Owner Mohammed Faruq
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
SCN9A NM_002977.3 ?/. - c.1109C>T r.(?) p.(Thr370Met) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000293510 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq