chr3:38581337:GA>AT Detail (hg38) (SCN5A, LOC110121269)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:38,622,828-38,622,829 View the variant detail on this assembly version. |
hg38 | chr3:38,581,337-38,581,338 |
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 |
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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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2021-01-17 | criteria provided, single submitter | not provided |
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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
- hg38
- Position
- chr3:38,581,337-38,581,338
- Variant Type
- snv
- Reference Allele
- GA
- Alternative Allele
- AT
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