chr15:73324216:G>T Detail (hg38) (HCN4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr15:73,616,557-73,616,557 View the variant detail on this assembly version. |
| hg38 | chr15:73,324,216-73,324,216 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005477.2:c.2016C>A | NP_005468.1:p.Ser672Arg |
| Ensemble | ENST00000261917.4:c.2016C>A | ENST00000261917.4:p.Ser672Arg |
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 |
|---|---|---|---|---|---|
Pathogenic
|
2006-01-12 | no assertion criteria provided | Sick sinus syndrome 2, autosomal dominant |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.360 | Sick sinus syndrome 2, autosomal dominant | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_005477.3(HCN4):c.2016C>A (p.Ser672Arg) AND Sick sinus syndrome 2, autosomal dominant | 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
- rs104894488 dbSNP
- Genome
- hg38
- Position
- chr15:73,324,216-73,324,216
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
Genome browser