chr3:38592389:A>G Detail (hg19) (SCN5A)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:38,592,389-38,592,389 |
hg38 | chr3:38,550,898-38,550,898 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000335.4:c.5474T>C | NP_000326.2:p.Leu1825Pro |
NM_198056.2:c.5474T>C | NP_932173.1:p.Leu1825Pro | |
NM_001099404.1:c.5474T>C | NP_001092874.1:p.Leu1825Pro |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | 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 | Acquired long QT syndrome |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.121 | Acquired long QT syndrome | NA | CLINVAR | Detail | |
0.335 | long QT syndrome | Although L1825P generates late sodium current typical of SCN5A-linked long-QT sy... | BeFree | 16301357 | Detail |
0.248 | Torsades de pointes | The cardiac sodium channel (SCN5A) mutation L1825P has been identified in a pati... | BeFree | 16301357 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000335.5(SCN5A):c.5471T>C (p.Leu1824Pro) AND Acquired long QT syndrome | ClinVar | Detail |
NA | DisGeNET | Detail |
Although L1825P generates late sodium current typical of SCN5A-linked long-QT syndrome (LQT3) in vit... | DisGeNET | Detail |
The cardiac sodium channel (SCN5A) mutation L1825P has been identified in a patient with drug-induce... | 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
- rs79299226 dbSNP
- Genome
- hg19
- Position
- chr3:38,592,389-38,592,389
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser