Variant #0000188289 (NC_000002.11:g.167163574A>G, SCN9A(NM_002977.3):c.269T>C)

Individual ID 00116976
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.167163574A>G
DNA change (hg38) g.166307064A>G
Published as -
ISCN -
DB-ID SCN9A_000108
Variant remarks -
Reference PubMed: Bobbili 2018, Journal: Bobbili 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/567 controls
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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.269T>C r.(?) p.(Val90Ala) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000117444 DNA SEQ-NG - - - 1 Dheeraj Bobbili