chr3:38603758:C>T Detail (hg38) (SCN5A)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:38,645,249-38,645,249 View the variant detail on this assembly version. |
hg38 | chr3:38,603,758-38,603,758 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000335.4:c.1844G>A | NP_000326.2:p.Gly615Glu |
NM_198056.2:c.1844G>A | NP_932173.1:p.Gly615Glu | |
NM_001099404.1:c.1844G>A | NP_001092874.1:p.Gly615Glu |
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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no assertion provided | Congenital long QT syndrome |
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Detail | |
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2013-06-24 | criteria provided, single submitter | Long QT syndrome, drug-associated |
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Detail |
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2021-08-16 | criteria provided, multiple submitters, no conflicts | not specified |
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Detail |
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2022-11-01 | criteria provided, single submitter | Brugada syndrome |
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Detail |
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2015-03-27 | no assertion criteria provided |
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Detail | |
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2015-03-28 | no assertion criteria provided |
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Detail | |
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2017-04-06 | criteria provided, single submitter | long QT syndrome 3 |
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Detail |
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2023-08-25 | criteria provided, single submitter |
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Detail | |
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2023-05-15 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2022-12-21 | criteria provided, single submitter | Cardiac arrhythmia |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.440 | long QT syndrome 3 | Allelic variants in long-QT disease genes in patients with drug-associated torsa... | UNIPROT | 11997281 | Detail |
0.837 | Brugada Syndrome (disorder) | Allelic variants in long-QT disease genes in patients with drug-associated torsa... | UNIPROT | 11997281 | Detail |
0.335 | long QT syndrome | In contrast, in 6 of 60 women (10%), we identified 5 rare missense variants in S... | BeFree | 18071069 | Detail |
0.130 | Congenital long QT syndrome | NA | CLINVAR | Detail | |
0.837 | Brugada Syndrome (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) AND Congenital long QT syndrome | ClinVar | Detail |
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) AND Long QT syndrome, drug-associated | ClinVar | Detail |
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) AND not specified | ClinVar | Detail |
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) AND Brugada syndrome | ClinVar | Detail |
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) AND Death in infancy | ClinVar | Detail |
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) AND Death in early adulthood | ClinVar | Detail |
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) AND Long QT syndrome 3 | ClinVar | Detail |
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) AND Cardiovascular phenotype | ClinVar | Detail |
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) AND not provided | ClinVar | Detail |
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) AND Cardiac arrhythmia | ClinVar | Detail |
Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. | DisGeNET | Detail |
Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. | DisGeNET | Detail |
In contrast, in 6 of 60 women (10%), we identified 5 rare missense variants in SCN5A that either had... | 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 |
---|
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs12720452 dbSNP
- Genome
- hg38
- Position
- chr3:38,603,758-38,603,758
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8480
- 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)
- 108674
- Allele Counts in All Race (ExAC)
- 25
- Heterozygous Counts in All Race (ExAC)
- 25
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 2.3004582512836557E-4
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