Variant #0000658231 (NC_000017.10:g.62049575T>G, SCN4A(NM_000334.4):c.403A>C)

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.62049575T>G
DNA change (hg38) g.63972215T>G
Published as SCN4A(NM_000334.4):c.403A>C (p.M135L)
ISCN -
DB-ID SCN4A_000234
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) 0.0008 View details
Owner VKGL-NL_Utrecht
Database submission license No license selected
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SCN4A NM_000334.4 -?/. - c.403A>C r.(?) p.(Met135Leu)