chr5:1266519:C>A Detail (hg38) (TERT)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr5:1,266,634-1,266,634 View the variant detail on this assembly version. |
hg38 | chr5:1,266,519-1,266,519 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001193376.1:c.2599G>T | NP_001180305.1:p.Val867Leu |
NM_198253.2:c.2599G>T | NP_937983.2:p.Val867Leu | |
Ensemble | ENST00000310581.10:c.2599G>T | ENST00000310581.10:p.Val867Leu |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
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
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
- rs201159197 dbSNP
- Genome
- hg38
- Position
- chr5:1,266,519-1,266,519
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
Genome browser