chr5:1272252:T>C Detail (hg38) (TERT)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr5:1,272,367-1,272,367 View the variant detail on this assembly version. |
hg38 | chr5:1,272,252-1,272,252 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001193376.1:c.2315A>G | NP_001180305.1:p.Tyr772Cys |
NM_198253.2:c.2315A>G | NP_937983.2:p.Tyr772Cys | |
Ensemble | ENST00000310581.10:c.2315A>G | ENST00000310581.10:p.Tyr772Cys |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.248 | aplastic anemia | 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.2315A>G (p.Tyr772Cys) AND Pulmonary fibrosis and/or bone marrow failure, Telomer... | ClinVar | Detail |
NM_198253.3(TERT):c.2315A>G (p.Tyr772Cys) AND Aplastic anemia | 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
- rs121918663 dbSNP
- Genome
- hg38
- Position
- chr5:1,272,252-1,272,252
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser