Variant #0000351741 (NC_000002.11:g.167163043T>C, SCN9A(NM_002977.3):c.444A>G)

Individual ID 00152048
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.167163043T>C
DNA change (hg38) g.166306533T>C
Published as P148P
ISCN -
DB-ID SCN9A_000009 See all 5 reported entries
Variant remarks -
Reference PubMed: Drenth 2005
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.62838 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 +/. 2 c.444A>G r.(?) p.(Pro148=) D1/S1-S2ex



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000152905 DNA SEQ - - SCN9A 1 Christoph Lossin