Variant #0000182845 (NC_000017.10:g.62049749C>T, SCN4A(NM_000334.4):c.355G>A)

Individual ID 00112830
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.62049749C>T
DNA change (hg38) g.63972389C>T
Published as -
ISCN -
DB-ID SCN4A_000001 See all 4 reported entries
Variant remarks -
Reference Leiden, unpublished
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00241 View details
Owner Vincent Janmaat
Database submission license No license selected
Created by Vincent Janmaat
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SCN4A NM_000334.4 ?/. 2 c.355G>A r.(?) p.(Val119Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000113288 DNA SEQ - - SCN4A 6 Vincent Janmaat