chr3:38579416:G>A Detail (hg38) (SCN5A, LOC110121269)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:38,620,907-38,620,907 View the variant detail on this assembly version. |
hg38 | chr3:38,579,416-38,579,416 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000335.4:c.3308C>T | NP_000326.2:p.Ser1103Phe |
NM_198056.2:c.3308C>T | NP_932173.1:p.Ser1103Phe | |
NM_001099404.1:c.3308C>T | NP_001092874.1:p.Ser1103Phe |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2019-06-23 | criteria provided, single submitter | not provided |
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Detail |
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2023-09-17 | criteria provided, multiple submitters, no conflicts | Cardiac arrhythmia |
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Detail |
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2022-07-20 | criteria provided, single submitter | Brugada syndrome |
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Detail |
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2021-09-27 | criteria provided, single submitter | Progressive familial heart block, type 1A,long QT syndrome 3,sudden infant death syndrome,Brugada syndrome 1,Atrial fibrillation, familial, 10,dilated cardiomyopathy 1E,Ventricular fibrillation, paroxysmal familial, type 1,Sick sinus syndrome 1 |
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Detail |
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2021-09-27 | criteria provided, single submitter | Progressive familial heart block, type 1A,long QT syndrome 3,sudden infant death syndrome,Brugada syndrome 1,Atrial fibrillation, familial, 10,dilated cardiomyopathy 1E,Ventricular fibrillation, paroxysmal familial, type 1,Sick sinus syndrome 1 |
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Detail |
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2021-09-27 | criteria provided, single submitter | Progressive familial heart block, type 1A,long QT syndrome 3,sudden infant death syndrome,Brugada syndrome 1,Atrial fibrillation, familial, 10,dilated cardiomyopathy 1E,Ventricular fibrillation, paroxysmal familial, type 1,Sick sinus syndrome 1 |
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Detail |
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2021-09-27 | criteria provided, single submitter | Progressive familial heart block, type 1A,long QT syndrome 3,sudden infant death syndrome,Brugada syndrome 1,Atrial fibrillation, familial, 10,dilated cardiomyopathy 1E,Ventricular fibrillation, paroxysmal familial, type 1,Sick sinus syndrome 1 |
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Detail |
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2021-09-27 | criteria provided, single submitter | Progressive familial heart block, type 1A,long QT syndrome 3,sudden infant death syndrome,Brugada syndrome 1,Atrial fibrillation, familial, 10,dilated cardiomyopathy 1E,Ventricular fibrillation, paroxysmal familial, type 1,Sick sinus syndrome 1 |
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Detail |
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2021-09-27 | criteria provided, single submitter | Progressive familial heart block, type 1A,long QT syndrome 3,sudden infant death syndrome,Brugada syndrome 1,Atrial fibrillation, familial, 10,dilated cardiomyopathy 1E,Ventricular fibrillation, paroxysmal familial, type 1,Sick sinus syndrome 1 |
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Detail |
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2021-09-27 | criteria provided, single submitter | Progressive familial heart block, type 1A,long QT syndrome 3,sudden infant death syndrome,Brugada syndrome 1,Atrial fibrillation, familial, 10,dilated cardiomyopathy 1E,Ventricular fibrillation, paroxysmal familial, type 1,Sick sinus syndrome 1 |
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Detail |
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2021-09-27 | criteria provided, single submitter | Progressive familial heart block, type 1A,long QT syndrome 3,sudden infant death syndrome,Brugada syndrome 1,Atrial fibrillation, familial, 10,dilated cardiomyopathy 1E,Ventricular fibrillation, paroxysmal familial, type 1,Sick sinus syndrome 1 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.386 | sudden infant death syndrome | NA | CLINVAR | Detail | |
0.120 | LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO (finding) | NA | CLINVAR | Detail | |
0.386 | sudden infant death syndrome | Our data provide evidence that SCN5A allelic expression imbalance occurs in Afri... | BeFree | 20470418 | Detail |
0.003 | congestive heart failure | We hypothesized that the S1103Y cardiac sodium channel SCN5A variant influences ... | BeFree | 21498565 | Detail |
0.386 | sudden infant death syndrome | The common polymorphism SCN5A-S1103Y (∼13% allelic frequency in African American... | BeFree | 21385947 | Detail |
0.004 | Syncope | In this study, we define an SCN5A mutation, S1103Y, in a white family associated... | BeFree | 12471205 | Detail |
0.091 | Heart failure | We hypothesized that the S1103Y cardiac sodium channel SCN5A variant influences ... | BeFree | 21498565 | Detail |
<0.001 | Acidosis, Respiratory | Wild-type and mutant SCN5A channels both functioned typically under normal condi... | BeFree | 16453014 | Detail |
0.386 | sudden infant death syndrome | Targeted mutational analysis of exon 18 in SCN5A of the African-American SIDS co... | BeFree | 18452875 | Detail |
0.386 | sudden infant death syndrome | Wild-type and mutant SCN5A channels both functioned typically under normal condi... | BeFree | 16453014 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000335.5(SCN5A):c.3305C>T (p.Ser1102Phe) AND not provided | ClinVar | Detail |
NM_000335.5(SCN5A):c.3305C>T (p.Ser1102Phe) AND Cardiac arrhythmia | ClinVar | Detail |
NM_000335.5(SCN5A):c.3305C>T (p.Ser1102Phe) AND Brugada syndrome | ClinVar | Detail |
NM_000335.5(SCN5A):c.3305C>T (p.Ser1102Phe) AND multiple conditions | ClinVar | Detail |
NM_000335.5(SCN5A):c.3305C>T (p.Ser1102Phe) AND multiple conditions | ClinVar | Detail |
NM_000335.5(SCN5A):c.3305C>T (p.Ser1102Phe) AND multiple conditions | ClinVar | Detail |
NM_000335.5(SCN5A):c.3305C>T (p.Ser1102Phe) AND multiple conditions | ClinVar | Detail |
NM_000335.5(SCN5A):c.3305C>T (p.Ser1102Phe) AND multiple conditions | ClinVar | Detail |
NM_000335.5(SCN5A):c.3305C>T (p.Ser1102Phe) AND multiple conditions | ClinVar | Detail |
NM_000335.5(SCN5A):c.3305C>T (p.Ser1102Phe) AND multiple conditions | ClinVar | Detail |
NM_000335.5(SCN5A):c.3305C>T (p.Ser1102Phe) AND multiple conditions | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Our data provide evidence that SCN5A allelic expression imbalance occurs in African-Americans hetero... | DisGeNET | Detail |
We hypothesized that the S1103Y cardiac sodium channel SCN5A variant influences the propensity for v... | DisGeNET | Detail |
The common polymorphism SCN5A-S1103Y (∼13% allelic frequency in African Americans) is a risk factor ... | DisGeNET | Detail |
In this study, we define an SCN5A mutation, S1103Y, in a white family associated with syncope, ventr... | DisGeNET | Detail |
We hypothesized that the S1103Y cardiac sodium channel SCN5A variant influences the propensity for v... | DisGeNET | Detail |
Wild-type and mutant SCN5A channels both functioned typically under normal conditions in vitro, but ... | DisGeNET | Detail |
Targeted mutational analysis of exon 18 in SCN5A of the African-American SIDS cohort (n = 71) reveal... | DisGeNET | Detail |
Wild-type and mutant SCN5A channels both functioned typically under normal conditions in vitro, but ... | 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
- rs7626962 dbSNP
- Genome
- hg38
- Position
- chr3:38,579,416-38,579,416
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 7580
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 102000
- Allele Counts in All Race (ExAC)
- 2
- Heterozygous Counts in All Race (ExAC)
- 2
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.9607843137254903E-5
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