chr12:25227234:C>T Detail (hg38) (KRAS)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:25,380,168-25,380,168 View the variant detail on this assembly version. |
| hg38 | chr12:25,227,234-25,227,234 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004985.4:c.290G>A | NP_004976.2:p.Arg97Lys |
| NM_033360.3:c.290G>A | NP_203524.1:p.Arg97Lys | |
| Ensemble | ENST00000256078.10:c.290G>A | ENST00000256078.10:p.Arg97Lys |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2014-08-28 | no assertion criteria provided | Non-small cell lung carcinoma |
somatic
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.321 | Non-small cell lung carcinoma | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004985.5(KRAS):c.290G>A (p.Arg97Lys) AND Non-small cell lung carcinoma | ClinVar | 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
- rs727503106 dbSNP
- Genome
- hg38
- Position
- chr12:25,227,234-25,227,234
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser