Variant #0000064170 (NC_000002.11:g.167145120_167145122del, SCN9A(NM_002977.3):c.1143_1145del)

Individual ID 00036975
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.167145120_167145122del
DNA change (hg38) g.166288610_166288612del
Published as -
ISCN -
DB-ID SCN9A_000076
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
SCN9A NM_002977.3 ?/. - c.1143_1145del r.(?) p.(Phe382del) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000037045 DNA SEQ - - SCN9A 1 Andreas Laner