Variant #0000351784 (NC_000002.11:g.167159730_167159731del, SCN9A(NM_002977.3):c.774_775del)

Individual ID 00152088
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.167159730_167159731del
DNA change (hg38) g.166303220_166303221del
Published as 774_775delGT
ISCN -
DB-ID SCN9A_000020
Variant remarks -
Reference PubMed: Nilsen 2009
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 Christoph Lossin
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
SCN9A NM_002977.3 +/. 7 c.774_775del r.(?) p.(Val258Valfs*16) D1/S5



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000152945 DNA SEQ - - SCN9A 1 Christoph Lossin