chr3:38622828:GA>AT Detail (hg19) (SCN5A, LOC110121269)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:38,622,828-38,622,829 |
| hg38 | chr3:38,581,337-38,581,338 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000335.4:c.2821_2822delinsAT | NP_000326.2:p.Ser941Ile |
| NM_198056.2:c.2821_2822delinsAT | NP_932173.1:p.Ser941Ile | |
| NM_001099404.1:c.2821_2822delinsAT | NP_001092874.1:p.Ser941Ile |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2021-01-17 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.440 | long QT syndrome 3 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000335.5(SCN5A):c.2821_2822delinsAT (p.Ser941Ile) AND not provided | ClinVar | 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
- rs137854605 dbSNP
- Genome
- hg19
- Position
- chr3:38,622,828-38,622,829
- Variant Type
- snv
- Reference Allele
- GA
- Alternative Allele
- AT
Genome browser