Variant #0000562704 (NC_000017.10:g.62049961C>G, SCN4A(NM_000334.4):c.241G>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.62049961C>G
DNA change (hg38) g.63972601C>G
Published as SCN4A(NM_000334.4):c.241G>C (p.(Glu81Gln))
ISCN -
DB-ID SCN4A_000217
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) 0.00107 View details
Owner VKGL-NL_Leiden
Database submission license No license selected
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SCN4A NM_000334.4 -?/. - c.241G>C r.(?) p.(Glu81Gln)