Variant #0000182837 (NC_000017.10:g.62049738G>A, SCN4A(NM_000334.4):c.366C>T)

Individual ID 00112834
Chromosome 17
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.62049738G>A
DNA change (hg38) g.63972378G>A
Published as -
ISCN -
DB-ID SCN4A_000002 See all 15 reported entries
Variant remarks -
Reference Leiden, unpublished
ClinVar ID -
dbSNP ID rs41280108
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.04729 View details
Owner Vincent Janmaat
Database submission license No license selected
Created by Vincent Janmaat
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SCN4A NM_000334.4 -/- 2 c.366C>T r.(?) p.(Arg122Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000113292 DNA SEQ - - SCN4A 6 Vincent Janmaat