chr5:1294770:C>T Detail (hg38) (TERT, LOC110806263)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:1,294,885-1,294,885 View the variant detail on this assembly version. |
| hg38 | chr5:1,294,770-1,294,770 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001193376.1:c.219+1G>A | |
| NM_198253.2:c.219+1G>A | ||
| Ensemble | ENST00000310581.10:c.219+1G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| 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 |
not provided
|
no assertion provided | interstitial lung disease 2 |
unknown
|
Detail | |
|
Likely pathogenic
|
2021-08-04 | criteria provided, single submitter | Dyskeratosis congenita, autosomal dominant 2,Idiopathic Pulmonary Fibrosis |
germline
|
Detail |
|
Likely pathogenic
|
2021-08-04 | criteria provided, single submitter | Dyskeratosis congenita, autosomal dominant 2,Idiopathic Pulmonary Fibrosis |
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.219+1G>A AND Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | ClinVar | Detail |
| NM_198253.3(TERT):c.219+1G>A AND Interstitial lung disease 2 | ClinVar | Detail |
| NM_198253.3(TERT):c.219+1G>A AND multiple conditions | ClinVar | Detail |
| NM_198253.3(TERT):c.219+1G>A AND multiple conditions | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs199422309 dbSNP
- Genome
- hg38
- Position
- chr5:1,294,770-1,294,770
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser