Variant #0000188121 (NC_000002.11:g.167163549G>T, SCN9A(NM_002977.3):c.294C>A)

Individual ID 00116808
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.167163549G>T
DNA change (hg38) g.166307039G>T
Published as -
ISCN -
DB-ID SCN9A_000107
Variant remarks -
Reference PubMed: Bobbili 2018, Journal: Bobbili 2018
ClinVar ID -
dbSNP ID rs199824489
Origin Germline
Segregation -
Frequency 1/567 controls
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Dheeraj Bobbili
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
SCN9A NM_002977.3 ./. - c.294C>A r.(?) p.(Phe98Leu) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000117276 DNA SEQ-NG - - - 1 Dheeraj Bobbili