chr12:25380275:T>A Detail (hg19) (KRAS)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:25,380,275-25,380,275 |
| hg38 | chr12:25,227,341-25,227,341 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004985.4:c.183A>T | NP_004976.2:p.Gln61His |
| NM_033360.3:c.183A>T | NP_203524.1:p.Gln61His | |
| Ensemble | ENST00000685328.1:c.183A>T | ENST00000685328.1:p.Gln61His |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 33 |
| 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
|
descending colon |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
sigmoid colon |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
body of pancreas |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
Carcinoma of pancreas (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Primary adenocarcinoma of colon (disorder) |
unknown
|
MGS000023
(TMGS000082) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
body of stomach |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
caecum |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
ascending colon |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
transverse colon |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
descending 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
|
colon, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
body of pancreas |
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
|
lymphadenopathy |
somatic
|
MGS000039
(TMGS000092) |
Hitoshi Nakagama | National Cancer Center Japan |
29659903
|
|||
|
not provided
|
head of pancreas |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
body of pancreas |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
bronchus or lung, unspecified |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2014-10-02 | no assertion criteria provided | Non-small cell lung carcinoma |
somatic
|
Detail |
|
Pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of the large intestine |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | lung adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Malignant melanoma of skin |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Squamous cell lung carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Thyroid tumor |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | multiple myeloma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Malignant neoplasm of body of uterus |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | B-cell chronic lymphocytic leukemia |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | hepatocellular carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | acute myeloid leukemia |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided |
somatic
|
Detail | |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | gastric adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | pancreatic adenocarcinoma |
somatic
|
Detail |
|
Pathogenic
|
no assertion criteria provided | Cerebral arteriovenous malformation |
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.183A>T (p.Gln61His) AND Non-small cell lung carcinoma | ClinVar | Detail |
| NM_004985.5(KRAS):c.183A>T (p.Gln61His) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_004985.5(KRAS):c.183A>T (p.Gln61His) AND Lung adenocarcinoma | ClinVar | Detail |
| NM_004985.5(KRAS):c.183A>T (p.Gln61His) AND Malignant melanoma of skin | ClinVar | Detail |
| NM_004985.5(KRAS):c.183A>T (p.Gln61His) AND Squamous cell lung carcinoma | ClinVar | Detail |
| NM_004985.5(KRAS):c.183A>T (p.Gln61His) AND Thyroid tumor | ClinVar | Detail |
| NM_004985.5(KRAS):c.183A>T (p.Gln61His) AND Multiple myeloma | ClinVar | Detail |
| NM_004985.5(KRAS):c.183A>T (p.Gln61His) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
| NM_004985.5(KRAS):c.183A>T (p.Gln61His) AND B-cell chronic lymphocytic leukemia | ClinVar | Detail |
| NM_004985.5(KRAS):c.183A>T (p.Gln61His) AND Hepatocellular carcinoma | ClinVar | Detail |
| NM_004985.5(KRAS):c.183A>T (p.Gln61His) AND Acute myeloid leukemia | ClinVar | Detail |
| NM_004985.5(KRAS):c.183A>T (p.Gln61His) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
| NM_004985.5(KRAS):c.183A>T (p.Gln61His) AND Gastric adenocarcinoma | ClinVar | Detail |
| NM_004985.5(KRAS):c.183A>T (p.Gln61His) AND Pancreatic adenocarcinoma | ClinVar | Detail |
| NM_004985.5(KRAS):c.183A>T (p.Gln61His) AND Cerebral arteriovenous malformation | 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
- rs17851045 dbSNP
- Genome
- hg19
- Position
- chr12:25,380,275-25,380,275
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- A
Genome browser