chr5:1278687:A> Detail (hg38) (TERT)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:1,278,802-1,278,802 |
| hg38 | chr5:1,278,687-1,278,687 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001193376.1:c.2240delT | NP_001180305.1:p.Val747AlafsTer20 |
| NM_198253.2:c.2240delT | NP_937983.2:p.Val747AlafsTer20 | |
| Ensemble | ENST00000310581.10:c.2240delT | ENST00000310581.10:p.Val747AlafsTer20 |
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
|
2007-05-01 | no assertion criteria provided | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 |
germline
|
Detail |
not provided
|
no assertion provided | interstitial lung disease 2 |
unknown
|
Detail | |
|
Pathogenic
|
2019-11-19 | criteria provided, single submitter | not provided |
germline
|
Detail |
| Likely risk allele | 2022-06-09 | no assertion criteria provided |
germline
|
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.2240del (p.Val747fs) AND Pulmonary fibrosis and/or bone marrow failure, Telomere... | ClinVar | Detail |
| NM_198253.3(TERT):c.2240del (p.Val747fs) AND Interstitial lung disease 2 | ClinVar | Detail |
| NM_198253.3(TERT):c.2240del (p.Val747fs) AND not provided | ClinVar | Detail |
| NM_198253.3(TERT):c.2240del (p.Val747fs) AND Pulmonary fibrosis | 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
- rs199422300 dbSNP
- Genome
- hg38
- Position
- chr5:1,278,687-1,278,687
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- -
Genome browser