Variant #0000188396 (NC_000002.11:g.167138314G>A, SCN9A(NM_002977.3):c.1946C>T)

Individual ID 00117083
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.167138314G>A
DNA change (hg38) g.166281804G>A
Published as -
ISCN -
DB-ID SCN9A_000104
Variant remarks -
Reference PubMed: Bobbili 2018, Journal: Bobbili 2018
ClinVar ID -
dbSNP ID rs200965749
Origin Germline
Segregation -
Frequency 1/194 cases RE
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 6.0E-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.1946C>T r.(?) p.(Thr649Met) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000117556 DNA SEQ-NG - - - 1 Dheeraj Bobbili