Variant #0000218388 (NC_000003.11:g.38671919G>A, NM_198056.2:c.275C>T (SCN5A))

Individual ID 00128405
Chromosome 3
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.38671919G>A
DNA change (hg38) g.38630428G>A
Published as -
ISCN -
DB-ID SCN5A_000803
Variant remarks -
Reference PubMed: Sahlin 2019, Journal: Sahlin 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
Owner Ellika Sahlin
Database submission license No license selected
Created by Ellika Sahlin
Date created 2017-09-15 15:53:29 +02:00 (CEST)
Date last edited 2019-06-06 15:50:12 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SCN5A NM_198056.2 ?/. - c.275C>T r.(?) p.(Thr92Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000129243 DNA SEQ-NG - HaloPlex gene panel (70 heart genes) - 1 Ellika Sahlin


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