chr5:1294941:A>T Detail (hg19) (TERT, LOC110806263)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr5:1,294,941-1,294,941 |
hg38 | chr5:1,294,826-1,294,826 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001193376.1:c.164T>A | NP_001180305.1:p.Leu55Gln |
NM_198253.2:c.164T>A | NP_937983.2:p.Leu55Gln | |
Ensemble | ENST00000310581.10:c.164T>A | ENST00000310581.10:p.Leu55Gln |
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 |
---|---|---|---|---|---|
0.493 | 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.164T>A (p.Leu55Gln) AND Pulmonary fibrosis and/or bone marrow failure, Telomere-... | ClinVar | Detail |
NM_198253.3(TERT):c.164T>A (p.Leu55Gln) AND Interstitial lung disease 2 | 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
- rs387907247 dbSNP
- Genome
- hg19
- Position
- chr5:1,294,941-1,294,941
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
Genome browser