chr3:38581170:C>T Detail (hg38) (SCN5A, LOC110121269)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:38,622,661-38,622,661 View the variant detail on this assembly version. |
hg38 | chr3:38,581,170-38,581,170 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000335.4:c.2989G>A | NP_000326.2:p.Ala997Thr |
NM_198056.2:c.2989G>A | NP_932173.1:p.Ala997Thr | |
NM_001099404.1:c.2989G>A | NP_001092874.1:p.Ala997Thr |
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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2016-08-03 | criteria provided, multiple submitters, no conflicts | Brugada syndrome |
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Detail |
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2018-04-05 | criteria provided, single submitter | Brugada syndrome,sudden infant death syndrome |
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Detail |
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2018-04-05 | criteria provided, single submitter | Brugada syndrome,sudden infant death syndrome |
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Detail |
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2024-01-19 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2017-04-28 | criteria provided, single submitter | Ventricular fibrillation, paroxysmal familial, type 1 |
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Detail |
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2017-04-28 | criteria provided, single submitter | long QT syndrome 3 |
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Detail |
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2017-04-28 | criteria provided, single submitter | dilated cardiomyopathy 1E |
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Detail |
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2019-08-20 | criteria provided, multiple submitters, no conflicts | Sick sinus syndrome 1 |
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Detail |
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2017-04-28 | criteria provided, single submitter | Progressive familial heart block, type 1A |
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Detail |
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2024-02-05 | criteria provided, multiple submitters, no conflicts | Cardiac arrhythmia |
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Detail |
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2022-03-14 | criteria provided, single submitter | cardiomyopathy |
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Detail |
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2022-09-09 | criteria provided, single submitter |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.130 | Congenital long QT syndrome | NA | CLINVAR | Detail | |
0.837 | Brugada Syndrome (disorder) | NA | CLINVAR | Detail | |
0.440 | long QT syndrome 3 | NA | CLINVAR | Detail | |
0.386 | sudden infant death syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr) AND Brugada syndrome | ClinVar | Detail |
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr) AND multiple conditions | ClinVar | Detail |
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr) AND multiple conditions | ClinVar | Detail |
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr) AND not provided | ClinVar | Detail |
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr) AND Ventricular fibrillation, paroxysmal familial, type 1 | ClinVar | Detail |
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr) AND Long QT syndrome 3 | ClinVar | Detail |
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr) AND Dilated cardiomyopathy 1E | ClinVar | Detail |
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr) AND Sick sinus syndrome 1 | ClinVar | Detail |
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr) AND Progressive familial heart block, type 1A | ClinVar | Detail |
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr) AND Cardiac arrhythmia | ClinVar | Detail |
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr) AND Cardiomyopathy | ClinVar | Detail |
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr) AND Cardiovascular phenotype | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
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- Gene
- -
- dbSNP
- rs137854609 dbSNP
- Genome
- hg38
- Position
- chr3:38,581,170-38,581,170
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 7646
- 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)
- 104192
- Allele Counts in All Race (ExAC)
- 13
- Heterozygous Counts in All Race (ExAC)
- 13
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.2476965601965602E-4
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