chr5:1266652:T>G Detail (hg19) (TERT)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:1,266,652-1,266,652 |
| hg38 | chr5:1,266,537-1,266,537 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001193376.1:c.2583-2A>C | |
| NM_198253.2:c.2583-2A>C | ||
| Ensemble | ENST00000310581.10:c.2583-2A>C |
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
|
2007-03-29 | no assertion criteria provided | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 |
germline
|
Detail |
|
Pathogenic
|
2012-05-10 | no assertion criteria provided | interstitial lung disease 2 |
not provided
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.493 | Idiopathic Pulmonary Fibrosis | NA | CLINVAR | Detail | |
| 0.240 | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_198253.3(TERT):c.2583-2A>C AND Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | ClinVar | Detail |
| NM_198253.3(TERT):c.2583-2A>C AND Interstitial lung disease 2 | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs111576740 dbSNP
- Genome
- hg19
- Position
- chr5:1,266,652-1,266,652
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
Genome browser