chr5:1264479:G>A Detail (hg38) (TERT)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:1,264,594-1,264,594 View the variant detail on this assembly version. |
| hg38 | chr5:1,264,479-1,264,479 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001193376.1:c.2768C>T | NP_001180305.1:p.Pro923Leu |
| NM_198253.2:c.2768C>T | NP_937983.2:p.Pro923Leu | |
| Ensemble | ENST00000310581.10:c.2768C>T | ENST00000310581.10:p.Pro923Leu |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2012-04-19 | no assertion criteria provided | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 |
germline
|
Detail |
Conflicting interpretations of pathogenicity
|
2022-06-09 | criteria provided, conflicting interpretations | not provided |
germline
|
Detail |
Likely pathogenic
|
2022-04-14 | criteria provided, single submitter | dyskeratosis congenita,Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Likely pathogenic
|
2022-04-14 | criteria provided, single submitter | dyskeratosis congenita,Hereditary cancer-predisposing syndrome |
germline
|
Detail |
Uncertain significance
|
2023-03-07 | criteria provided, single submitter | Idiopathic Pulmonary Fibrosis,Dyskeratosis congenita, autosomal dominant 2 |
germline
|
Detail |
|
Uncertain significance
|
2023-03-07 | criteria provided, single submitter | Idiopathic Pulmonary Fibrosis,Dyskeratosis congenita, autosomal dominant 2 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 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.2768C>T (p.Pro923Leu) AND Pulmonary fibrosis and/or bone marrow failure, Telomer... | ClinVar | Detail |
| NM_198253.3(TERT):c.2768C>T (p.Pro923Leu) AND not provided | ClinVar | Detail |
| NM_198253.3(TERT):c.2768C>T (p.Pro923Leu) AND multiple conditions | ClinVar | Detail |
| NM_198253.3(TERT):c.2768C>T (p.Pro923Leu) AND multiple conditions | ClinVar | Detail |
| NM_198253.3(TERT):c.2768C>T (p.Pro923Leu) AND multiple conditions | ClinVar | Detail |
| NM_198253.3(TERT):c.2768C>T (p.Pro923Leu) AND multiple conditions | 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
- rs387907251 dbSNP
- Genome
- hg38
- Position
- chr5:1,264,479-1,264,479
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser