chr12:25380279:C>A Detail (hg19) (KRAS)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:25,380,279-25,380,279 |
| hg38 | chr12:25,227,345-25,227,345 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004985.4:c.179G>T | NP_004976.2:p.Gly60Val |
| NM_033360.3:c.179G>T | NP_203524.1:p.Gly60Val | |
| Ensemble | ENST00000256078.10:c.179G>T | ENST00000256078.10:p.Gly60Val |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
bronchus or lung, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2013-07-19 | no assertion criteria provided | Non-small cell lung carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2013-07-19 | no assertion criteria provided | Cardio-facio-cutaneous syndrome,Noonan syndrome |
germline
|
Detail |
|
Likely pathogenic
|
2013-07-19 | no assertion criteria provided | Cardio-facio-cutaneous syndrome,Noonan syndrome |
germline
|
Detail |
|
Pathogenic
Likely pathogenic
|
2021-10-26 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2022-07-26 | criteria provided, single submitter | RASopathy |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.440 | Noonan syndrome 3 | NA | CLINVAR | Detail | |
| 0.321 | Non-small cell lung carcinoma | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004985.5(KRAS):c.179G>T (p.Gly60Val) AND Non-small cell lung carcinoma | ClinVar | Detail |
| NM_004985.5(KRAS):c.179G>T (p.Gly60Val) AND multiple conditions | ClinVar | Detail |
| NM_004985.5(KRAS):c.179G>T (p.Gly60Val) AND multiple conditions | ClinVar | Detail |
| NM_004985.5(KRAS):c.179G>T (p.Gly60Val) AND not provided | ClinVar | Detail |
| NM_004985.5(KRAS):c.179G>T (p.Gly60Val) AND RASopathy | 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
- rs727503108 dbSNP
- Genome
- hg19
- Position
- chr12:25,380,279-25,380,279
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
Genome browser