chr3:38592996:G>A Detail (hg19) (SCN5A)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:38,592,996-38,592,996 |
hg38 | chr3:38,551,505-38,551,505 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001099404.1:c.4867C>T | NP_001092874.1:p.Arg1623Ter |
NM_001160160.1:c.4867C>T | NP_001153632.1:p.Arg1623Ter | |
NM_000335.4:c.4867C>T | NP_000326.2:p.Arg1623Ter |
Summary
MGeND
Clinical significance |
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Variant entry | 3 |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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brugada syndrome |
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MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University | ||||
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sick sinus syndrome |
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MGS000001
(TMGS000174) |
Kenjiro Kosaki | Keio University | ||||
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brugada syndrome |
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MGS000001
(TMGS000174) |
Kenjiro Kosaki | Keio University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2003-10-01 | no assertion criteria provided | Sick sinus syndrome 1 |
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Detail |
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2024-01-27 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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criteria provided, single submitter | Familial isolated arrhythmogenic right ventricular dysplasia |
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Detail | |
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2014-10-31 | no assertion criteria provided | long QT syndrome 3 |
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Detail |
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2022-06-15 | criteria provided, single submitter |
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Detail | |
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2023-09-14 | criteria provided, single submitter | Cardiac arrhythmia |
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Detail |
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2021-10-17 | criteria provided, single submitter | long QT syndrome 3,Brugada syndrome 1,sudden infant death syndrome,Sick sinus syndrome 1,Atrial fibrillation, familial, 10,dilated cardiomyopathy 1E,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A |
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Detail |
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2021-10-17 | criteria provided, single submitter | long QT syndrome 3,Brugada syndrome 1,sudden infant death syndrome,Sick sinus syndrome 1,Atrial fibrillation, familial, 10,dilated cardiomyopathy 1E,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A |
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Detail |
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2021-10-17 | criteria provided, single submitter | long QT syndrome 3,Brugada syndrome 1,sudden infant death syndrome,Sick sinus syndrome 1,Atrial fibrillation, familial, 10,dilated cardiomyopathy 1E,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A |
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Detail |
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2021-10-17 | criteria provided, single submitter | long QT syndrome 3,Brugada syndrome 1,sudden infant death syndrome,Sick sinus syndrome 1,Atrial fibrillation, familial, 10,dilated cardiomyopathy 1E,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A |
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Detail |
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2021-10-17 | criteria provided, single submitter | long QT syndrome 3,Brugada syndrome 1,sudden infant death syndrome,Sick sinus syndrome 1,Atrial fibrillation, familial, 10,dilated cardiomyopathy 1E,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A |
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Detail |
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2021-10-17 | criteria provided, single submitter | long QT syndrome 3,Brugada syndrome 1,sudden infant death syndrome,Sick sinus syndrome 1,Atrial fibrillation, familial, 10,dilated cardiomyopathy 1E,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A |
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Detail |
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2021-10-17 | criteria provided, single submitter | long QT syndrome 3,Brugada syndrome 1,sudden infant death syndrome,Sick sinus syndrome 1,Atrial fibrillation, familial, 10,dilated cardiomyopathy 1E,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A |
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Detail |
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2021-10-17 | criteria provided, single submitter | long QT syndrome 3,Brugada syndrome 1,sudden infant death syndrome,Sick sinus syndrome 1,Atrial fibrillation, familial, 10,dilated cardiomyopathy 1E,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A |
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Detail |
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2024-01-08 | criteria provided, multiple submitters, no conflicts | Brugada syndrome |
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Detail |
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2022-12-15 | criteria provided, single submitter | SCN5A-related disorder |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.360 | SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) AND Sick sinus syndrome 1 | ClinVar | Detail |
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) AND not provided | ClinVar | Detail |
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) AND Familial isolated arrhythmogenic right ventricular d... | ClinVar | Detail |
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) AND Long QT syndrome 3 | ClinVar | Detail |
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) AND Cardiovascular phenotype | ClinVar | Detail |
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) AND Cardiac arrhythmia | ClinVar | Detail |
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) AND multiple conditions | ClinVar | Detail |
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) AND multiple conditions | ClinVar | Detail |
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) AND multiple conditions | ClinVar | Detail |
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) AND multiple conditions | ClinVar | Detail |
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) AND multiple conditions | ClinVar | Detail |
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) AND multiple conditions | ClinVar | Detail |
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) AND multiple conditions | ClinVar | Detail |
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) AND multiple conditions | ClinVar | Detail |
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) AND Brugada syndrome | ClinVar | Detail |
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) AND SCN5A-related disorder | ClinVar | Detail |
NA | 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
- rs137854613 dbSNP
- Genome
- hg19
- Position
- chr3:38,592,996-38,592,996
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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