chr12:25380276:T>C Detail (hg19) (KRAS)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:25,380,276-25,380,276 |
| hg38 | chr12:25,227,342-25,227,342 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004985.4:c.182A>G | NP_004976.2:p.Gln61Arg |
| NM_033360.3:c.182A>G | NP_203524.1:p.Gln61Arg | |
| Ensemble | ENST00000311936.8:c.182A>G | ENST00000311936.8:p.Gln61Arg |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 12 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
descending colon |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
head of pancreas |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
Acute myeloblastic leukaemia |
somatic
|
MGS000005
(TMGS000006) |
Keizo Horibe | National Hospital Organization Nagoya Medical Center | ||||
|
not provided
|
Myelodysplastic syndromes |
somatic
|
MGS000005
(TMGS000006) |
Keizo Horibe | National Hospital Organization Nagoya Medical Center | ||||
|
not provided
|
Small bowel cancer |
somatic
|
MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
|
not provided
|
ascending colon |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
sigmoid colon |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
malignant neoplasm of rectum |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
bronchus or lung, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
other |
somatic
|
MGS000039
(TMGS000092) |
Hitoshi Nakagama | National Cancer Center Japan |
29659903
|
|||
|
not provided
|
descending colon |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2009-11-04 | criteria provided, single submitter | Noonan syndrome |
germline
|
Detail |
|
Pathogenic
|
2015-07-14 | no assertion criteria provided | Neoplasm of the large intestine |
somatic
|
Detail |
|
Pathogenic
|
2014-10-02 | no assertion criteria provided | Non-small cell lung carcinoma |
somatic
|
Detail |
|
Pathogenic
|
2014-10-02 | no assertion criteria provided | Thyroid tumor |
somatic
|
Detail |
Uncertain significance
|
2019-05-23 | criteria provided, single submitter | RASopathy |
germline
|
Detail |
|
Uncertain significance
|
2021-02-03 | criteria provided, single submitter | Noonan syndrome and Noonan-related syndrome |
germline
|
Detail |
Likely pathogenic
|
no assertion criteria provided | lung cancer |
somatic
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| colorectal cancer | Cetuximab,Irinotecan | C |
Predictive
|
Supports
|
Resistance | Somatic | 3 | 20619739 | Detail |
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.120 | Medullary carcinoma of thyroid | NA | CLINVAR | Detail | |
| 0.440 | Noonan syndrome 3 | NA | CLINVAR | Detail | |
| 0.149 | Carcinogenesis | This system allowed us to rapidly compare the ability of 12 different KRAS mutat... | BeFree | 25065594 | Detail |
| 0.321 | Non-small cell lung carcinoma | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Two patients participating in a large retrospective trial of cetuximab in metastatic, treatment refr... | CIViC Evidence | Detail |
| NM_004985.5(KRAS):c.182A>G (p.Gln61Arg) AND Noonan syndrome | ClinVar | Detail |
| NM_004985.5(KRAS):c.182A>G (p.Gln61Arg) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_004985.5(KRAS):c.182A>G (p.Gln61Arg) AND Non-small cell lung carcinoma | ClinVar | Detail |
| NM_004985.5(KRAS):c.182A>G (p.Gln61Arg) AND Thyroid tumor | ClinVar | Detail |
| NM_004985.5(KRAS):c.182A>G (p.Gln61Arg) AND RASopathy | ClinVar | Detail |
| NM_004985.5(KRAS):c.182A>G (p.Gln61Arg) AND Noonan syndrome and Noonan-related syndrome | ClinVar | Detail |
| NM_004985.5(KRAS):c.182A>G (p.Gln61Arg) AND Lung cancer | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| This system allowed us to rapidly compare the ability of 12 different KRAS mutations (G12A, G12C, G1... | 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
- rs121913240 dbSNP
- Genome
- hg19
- Position
- chr12:25,380,276-25,380,276
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Variant (CIViC) (CIViC Variant)
- Q61R
- Transcript 1 (CIViC Variant)
- ENST00000256078.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/909
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