chr7:116423408:A>T Detail (hg19) (MET)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:116,423,408-116,423,408 |
| hg38 | chr7:116,783,354-116,783,354 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001127500.2:c.3737A>T | NP_001120972.1:p.Asp1246Val |
| NM_000245.3:c.3683A>T | NP_000236.2:p.Asp1228Val | |
| NM_001324402.1:c.3683A>T | NP_001311331.1:p.Asp1228Val |
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
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| lung non-small cell carcinoma | Cabozantinib | C |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 4 | 27694386 | Detail |
| lung non-small cell carcinoma | Savolitinib | C |
Predictive
|
Supports
|
Resistance | Somatic | 4 | 27694386 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Case report of a patient with lung adenocarcinoma harboring both a mutation in EGFR and an amplifica... | CIViC Evidence | Detail |
| Case report of a patient with lung adenocarcinoma harboring both a mutation in EGFR and an amplifica... | CIViC Evidence | 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
- -
- Genome
- hg19
- Position
- chr7:116,423,408-116,423,408
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
- Variant (CIViC) (CIViC Variant)
- D1228V
- Transcript 1 (CIViC Variant)
- ENST00000397752.3
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/798
Genome browser