Variant #0000188480 (NC_000002.11:g.167108386G>A, NM_002977.3:c.3328C>T (SCN9A))

Individual ID 00116941
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.167108386G>A
DNA change (hg38) g.166251876G>A
Published as -
ISCN -
DB-ID SCN9A_000101 See all 4 reported entries
Variant remarks -
Reference PubMed: Bobbili 2018, Journal: Bobbili 2018
ClinVar ID -
dbSNP ID rs190664764
Origin Germline
Segregation -
Frequency 3/567 controls
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00365 View details
Owner Dheeraj Bobbili
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2017-08-03 15:16:01 +02:00 (CEST)
Date last edited 2025-03-15 17:18:02 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
SCN9A NM_002977.3 ./. - c.3328C>T r.(?) p.(Arg1110Trp) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000117409 DNA SEQ-NG - - - 3 Dheeraj Bobbili


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