chr3:38551513:G>T Detail (hg38) (SCN5A)

Information

Genome

Assembly Position
hg19 chr3:38,593,004-38,593,004 View the variant detail on this assembly version.
hg38 chr3:38,551,513-38,551,513

HGVS

Type Transcript Protein
RefSeq NM_000335.4:c.4859C>A NP_000326.2:p.Thr1620Lys
NM_198056.2:c.4859C>A NP_932173.1:p.Thr1620Lys
NM_001099404.1:c.4859C>A NP_001092874.1:p.Thr1620Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 600163 OMIM
HGNC 10593 HGNC
Ensembl ENSG00000183873 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
not provided no assertion provided Conduction system disorder germline Detail
Pathogenic 2022-07-19 criteria provided, single submitter not provided germline Detail
Uncertain significance 2022-09-06 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.837 Brugada Syndrome (disorder) NA CLINVAR Detail
0.120 CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder) NA CLINVAR Detail
0.837 Brugada Syndrome (disorder) Absence of a trafficking defect in R1232W/T1620M, a double SCN5A mutant responsi... BeFree 18503232 Detail
0.837 Brugada Syndrome (disorder) Expression and intracellular localization of an SCN5A double mutant R1232W/T1620... BeFree 11786529 Detail
0.837 Brugada Syndrome (disorder) SCN5A mutation (T1620M) causing Brugada syndrome exhibits different phenotypes w... BeFree 10664447 Detail
0.837 Brugada Syndrome (disorder) The biophysical properties of the SCN5A mutation T1620M associated with Brugada ... BeFree 11029409 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000335.5(SCN5A):c.4856C>A (p.Thr1619Lys) AND Conduction system disorder ClinVar Detail
NM_000335.5(SCN5A):c.4856C>A (p.Thr1619Lys) AND not provided ClinVar Detail
NM_000335.5(SCN5A):c.4856C>A (p.Thr1619Lys) AND Cardiovascular phenotype ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Absence of a trafficking defect in R1232W/T1620M, a double SCN5A mutant responsible for Brugada synd... DisGeNET Detail
Expression and intracellular localization of an SCN5A double mutant R1232W/T1620M implicated in Brug... DisGeNET Detail
SCN5A mutation (T1620M) causing Brugada syndrome exhibits different phenotypes when expressed in Xen... DisGeNET Detail
The biophysical properties of the SCN5A mutation T1620M associated with Brugada syndrome were examin... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs199473282 dbSNP
Genome
hg38
Position
chr3:38,551,513-38,551,513
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Genome browser