chr12:25378562:C>T Detail (hg19) (KRAS)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr12:25,378,562-25,378,562 |
hg38 | chr12:25,225,628-25,225,628 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_004985.4:c.436G>A | NP_004976.2:p.Ala146Thr |
NM_033360.3:c.436G>A | NP_203524.1:p.Ala146Thr | |
Ensemble | ENST00000256078.10:c.436G>A | ENST00000256078.10:p.Ala146Thr |
Summary
MGeND
Clinical significance |
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Variant entry | 58 |
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 |
---|---|---|---|---|---|---|---|---|---|
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stomach, unspecified |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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caecum |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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ascending colon |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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transverse colon |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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sigmoid colon |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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malignant neoplasm of rectosigmoid junction |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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malignant neoplasm of rectum |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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extrahepatic bile duct |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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Myelodysplastic syndromes |
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MGS000005
(TMGS000006) |
Keizo Horibe | National Hospital Organization Nagoya Medical Center | ||||
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Malignant tumor of unknown origin (disorder) |
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MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
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Carcinoma of colon (disorder) |
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MGS000023
(TMGS000082) |
Manabu Muto | Kyoto University | ||||
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colorectal cancer |
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MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
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caecum |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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ascending colon |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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transverse colon |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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sigmoid colon |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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colon, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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malignant neoplasm of rectosigmoid junction |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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malignant neoplasm of rectum |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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other |
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MGS000039
(TMGS000092) |
Hitoshi Nakagama | National Cancer Center Japan |
29659903
|
|||
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pyloric antrum |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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caecum |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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transverse colon |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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descending colon |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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colon, unspecified |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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malignant neoplasm of rectosigmoid junction |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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malignant neoplasm of rectum |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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extrahepatic bile duct |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2023-01-01 | criteria provided, conflicting interpretations | not provided |
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Detail |
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2015-07-14 | no assertion criteria provided | Neoplasm of the large intestine |
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Detail |
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2022-03-09 | no assertion criteria provided | OCULOECTODERMAL SYNDROME, SOMATIC |
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Detail |
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no assertion provided | Encephalocraniocutaneous lipomatosis |
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Detail | |
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2021-12-16 | criteria provided, single submitter | RASopathy |
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Detail |
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2021-10-01 | criteria provided, single submitter | Classic Hodgkin lymphoma |
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Detail |
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2024-01-30 | criteria provided, single submitter | cardiofaciocutaneous syndrome 2 |
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Detail |
CIViC
Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
---|---|---|---|---|---|---|---|---|---|
colorectal cancer | Selumetinib,Dactolisib | D |
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Sensitivity/Response | Somatic | 3 | 22392911 | Detail |
colorectal cancer | Cetuximab | D |
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Resistance | Somatic | 3 | 20570890 | Detail |
colorectal cancer | FOLFOX-4 Regimen,Cetuximab | B |
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Resistance | Somatic | 3 | 25666295 | Detail |
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.149 | Carcinogenesis | This system allowed us to rapidly compare the ability of 12 different KRAS mutat... | BeFree | 25065594 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
In 28 out of 40 (70%) metastatic colorectal cancer tumors implanted into mice, the therapeutic combi... | CIViC Evidence | Detail |
Preclinical data supporting resistance of Exon 4 mutations, in particular A146T, to cetuximab and se... | CIViC Evidence | Detail |
In a retrospective study of 148 treatment naive metastatic colorectal cancer patients, patients with... | CIViC Evidence | Detail |
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) AND not provided | ClinVar | Detail |
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) AND Neoplasm of the large intestine | ClinVar | Detail |
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) AND OCULOECTODERMAL SYNDROME, SOMATIC | ClinVar | Detail |
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) AND Encephalocraniocutaneous lipomatosis | ClinVar | Detail |
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) AND RASopathy | ClinVar | Detail |
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) AND Classic Hodgkin lymphoma | ClinVar | Detail |
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) AND Cardiofaciocutaneous syndrome 2 | ClinVar | Detail |
This system allowed us to rapidly compare the ability of 12 different KRAS mutations (G12A, G12C, G1... | 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
- rs121913527 dbSNP
- Genome
- hg19
- Position
- chr12:25,378,562-25,378,562
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Variant (CIViC) (CIViC Variant)
- A146T
- Transcript 1 (CIViC Variant)
- ENST00000256078.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/906
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