chr3:38647444:C>T Detail (hg19) (SCN5A)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:38,647,444-38,647,444 |
hg38 | chr3:38,605,953-38,605,953 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000335.4:c.1336G>A | NP_000326.2:p.Glu446Lys |
NM_198056.2:c.1336G>A | NP_932173.1:p.Glu446Lys | |
NM_001099404.1:c.1336G>A | NP_001092874.1:p.Glu446Lys |
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 | Conflicting classifications of pathogenicity |
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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2018-04-05 | criteria provided, multiple submitters, no conflicts | Primary dilated cardiomyopathy |
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Detail |
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2020-12-16 | criteria provided, multiple submitters, no conflicts | not specified |
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Detail |
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2022-05-09 | criteria provided, single submitter |
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Detail | |
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2024-04-04 | criteria provided, conflicting interpretations | Brugada syndrome 1 |
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Detail |
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2019-01-31 | criteria provided, single submitter | Progressive familial heart block, type 1A |
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Detail |
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2019-01-31 | criteria provided, single submitter | dilated cardiomyopathy 1E |
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Detail |
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2019-01-31 | criteria provided, single submitter | Ventricular fibrillation, paroxysmal familial, type 1 |
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Detail |
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2019-01-31 | criteria provided, single submitter | Sick sinus syndrome 1 |
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Detail |
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2018-10-20 | criteria provided, single submitter | Cardiac arrhythmia |
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Detail |
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2024-04-01 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.133 | Cardiomyopathy, Dilated | NA | CLINVAR | Detail | |
0.248 | Torsades de pointes | Two of the 13 patients (15%) who presented with QT prolongation and TdP were fou... | BeFree | 22338672 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) AND Primary dilated cardiomyopathy | ClinVar | Detail |
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) AND not specified | ClinVar | Detail |
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) AND Cardiovascular phenotype | ClinVar | Detail |
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) AND Brugada syndrome 1 | ClinVar | Detail |
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) AND Progressive familial heart block, type 1A | ClinVar | Detail |
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) AND Dilated cardiomyopathy 1E | ClinVar | Detail |
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) AND Ventricular fibrillation, paroxysmal familial, type 1 | ClinVar | Detail |
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) AND Sick sinus syndrome 1 | ClinVar | Detail |
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) AND Cardiac arrhythmia | ClinVar | Detail |
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) AND not provided | ClinVar | Detail |
NA | DisGeNET | Detail |
Two of the 13 patients (15%) who presented with QT prolongation and TdP were found to carry long QT ... | 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
- rs199473339 dbSNP
- Genome
- hg19
- Position
- chr3:38,647,444-38,647,444
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8550
- 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)
- 113512
- Allele Counts in All Race (ExAC)
- 82
- Heterozygous Counts in All Race (ExAC)
- 82
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 7.223905842554091E-4
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