chr5:1255401:A>G Detail (hg38) (TERT)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:1,255,516-1,255,516 View the variant detail on this assembly version. |
| hg38 | chr5:1,255,401-1,255,401 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001193376.1:c.3043T>C | NP_001180305.1:p.Cys1015Arg |
| NM_198253.2:c.3043T>C | NP_937983.2:p.Cys1015Arg | |
| Ensemble | ENST00000310581.10:c.3043T>C | ENST00000310581.10:p.Cys1015Arg |
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 |
|---|---|---|---|---|---|
not provided
|
no assertion provided | aplastic anemia |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.248 | aplastic anemia | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_198253.3(TERT):c.3043T>C (p.Cys1015Arg) AND Aplastic anemia | 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
- rs199422307 dbSNP
- Genome
- hg38
- Position
- chr5:1,255,401-1,255,401
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser