Variant #0000182821 (NC_000017.10:g.62048467G>A, SCN4A(NM_000334.4):c.703+55C>T)

Individual ID 00112853
Chromosome 17
Allele Paternal (confirmed)
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.62048467G>A
DNA change (hg38) g.63971107G>A
Published as -
ISCN -
DB-ID SCN4A_000004 See all 22 reported entries
Variant remarks Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message.
Reference Leiden, unpublished
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Vincent Janmaat
Database submission license No license selected
Created by Vincent Janmaat
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SCN4A NM_000334.4 -/- 5i c.703+55C>T r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000113311 DNA SEQ - - SCN4A 6 Vincent Janmaat