Variant #0000699416 (NC_000017.10:g.62048552G>A, SCN4A(NM_000334.4):c.673C>T)

Individual ID 00316026
Chromosome 17
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.62048552G>A
DNA change (hg38) g.63971192G>A
Published as -
ISCN -
DB-ID SCN4A_000181 See all 2 reported entries
Variant remarks -
Reference PubMed: Zaharieva 2016
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 Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SCN4A NM_000334.4 +/. - c.673C>T r.(?) p.(Arg225Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000317208 DNA SEQ;SEQ-NG - WES SCN4A 2 Johan den Dunnen