Variant #0000562705 (NC_000017.10:g.62050110C>A, SCN4A(NM_000334.4):c.92G>T)

Chromosome 17
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.62050110C>A
DNA change (hg38) g.63972750C>A
Published as SCN4A(NM_000334.4):c.92G>T (p.(Arg31Leu))
ISCN -
DB-ID SCN4A_000218
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00116 View details
Owner VKGL-NL_Leiden
Database submission license No license selected
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SCN4A NM_000334.4 -?/. - c.92G>T r.(?) p.(Arg31Leu)