Variant #0000562697 (NC_000017.10:g.62045462A>C, SCN4A(NM_000334.4):c.957T>G)

Chromosome 17
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.62045462A>C
DNA change (hg38) g.63968102A>C
Published as SCN4A(NM_000334.4):c.957T>G (p.(Tyr319Ter))
ISCN -
DB-ID SCN4A_000211
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) Variant not found in online data sets
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.957T>G r.(?) p.(Tyr319Ter)