Variant #0000251915 (NC_000017.10:g.62049574A>G, NM_000334.4:c.404T>C (SCN4A))

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.62049574A>G
DNA change (hg38) g.63972214A>G
Published as SCN4A(NM_000334.4):c.404T>C (p.(Met135Thr), p.M135T)
ISCN -
DB-ID SCN4A_000163 See all 2 reported entries
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) 0.00112 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2024-04-19 20:27:30 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SCN4A NM_000334.4 -?/. - c.404T>C r.(?) p.(Met135Thr)


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