chr5:1279376:C>T Detail (hg38) (TERT)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:1,279,491-1,279,491 View the variant detail on this assembly version. |
| hg38 | chr5:1,279,376-1,279,376 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001193376.1:c.2045G>A | NP_001180305.1:p.Gly682Asp |
| NM_198253.2:c.2045G>A | NP_937983.2:p.Gly682Asp | |
| Ensemble | ENST00000310581.10:c.2045G>A | ENST00000310581.10:p.Gly682Asp |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 2 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other |
germline
|
MGS000001
(TMGS000138) |
Kenjiro Kosaki | Keio University | ||||
|
Pathogenic
|
cryptic |
germline
|
MGS000001
(TMGS000138) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
not provided
|
no assertion provided | Dyskeratosis congenita, autosomal dominant 1 |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.241 | DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT | NA | CLINVAR | Detail | |
| <0.001 | Acquired aplastic anemia | Novel heterozygous, non-synonymous mutations in TERT (T726M and G682D) were foun... | BeFree | 16627250 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_198253.3(TERT):c.2045G>A (p.Gly682Asp) AND Dyskeratosis congenita, autosomal dominant 1 | ClinVar | Detail |
| NA | DisGeNET | Detail |
| Novel heterozygous, non-synonymous mutations in TERT (T726M and G682D) were found in two patients wi... | 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
- rs199422295 dbSNP
- Genome
- hg38
- Position
- chr5:1,279,376-1,279,376
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser