chr3:38599026:C>G Detail (hg38) (SCN5A)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:38,640,517-38,640,517 View the variant detail on this assembly version. |
hg38 | chr3:38,599,026-38,599,026 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000335.4:c.1915G>C | NP_000326.2:p.Gly639Arg |
NM_198056.2:c.1915G>C | NP_932173.1:p.Gly639Arg | |
NM_001099404.1:c.1915G>C | NP_001092874.1:p.Gly639Arg |
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 | Congenital long QT syndrome |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.130 | Congenital long QT syndrome | NA | CLINVAR | Detail | |
0.335 | long QT syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000335.5(SCN5A):c.1915G>C (p.Gly639Arg) AND Congenital long QT syndrome | ClinVar | 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
- rs199473136 dbSNP
- Genome
- hg38
- Position
- chr3:38,599,026-38,599,026
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
Genome browser