Variant #0000697707 (NC_000017.10:g.62049196C>T, SCN4A(NM_000334.4):c.497G>A)

Individual ID 00314445
Chromosome 17
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.62049196C>T
DNA change (hg38) g.63971836C>T
Published as -
ISCN -
DB-ID SCN4A_000244
Variant remarks combination of variants not reported
Reference PubMed: Topf 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/1001 cases
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.497G>A r.(?) p.(Gly166Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000315618 DNA SEQ;SEQ-NG - WES SCN4A 1 Johan den Dunnen