chr12:25380276:T>A 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>T | NP_004976.2:p.Gln61Leu |
NM_033360.3:c.182A>T | NP_203524.1:p.Gln61Leu | |
Ensemble | ENST00000256078.10:c.182A>T | ENST00000256078.10:p.Gln61Leu |
Summary
MGeND
Clinical significance |
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Variant entry | 33 |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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colon, unspecified |
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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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Carcinoma of colon (disorder) |
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MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
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ileum |
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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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colon, unspecified |
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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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intrahepatic bile duct carcinoma |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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head of pancreas |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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bronchus or lung, unspecified |
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MGS000042
(TMGS000093) |
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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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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body of pancreas |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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ill-defined sites within the digestive system |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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bronchus or lung, unspecified |
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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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2011-11-02 | criteria provided, single submitter | Non-small cell lung carcinoma |
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Detail |
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2015-09-01 | no assertion criteria provided | Medullary thyroid carcinoma |
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Detail |
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2014-10-02 | no assertion criteria provided | Thyroid tumor |
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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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2019-08-31 | no assertion criteria provided | multiple myeloma |
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Detail |
CIViC
Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
---|---|---|---|---|---|---|---|---|---|
colorectal cancer | Chemotherapy,Cetuximab | C |
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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>T (p.Gln61Leu) AND Non-small cell lung carcinoma | ClinVar | Detail |
NM_004985.5(KRAS):c.182A>T (p.Gln61Leu) AND Medullary thyroid carcinoma | ClinVar | Detail |
NM_004985.5(KRAS):c.182A>T (p.Gln61Leu) AND Thyroid tumor | ClinVar | Detail |
NM_004985.5(KRAS):c.182A>T (p.Gln61Leu) AND Neoplasm of the large intestine | ClinVar | Detail |
NM_004985.5(KRAS):c.182A>T (p.Gln61Leu) AND Multiple myeloma | 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
- A
- Variant (CIViC) (CIViC Variant)
- Q61L
- Transcript 1 (CIViC Variant)
- ENST00000256078.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/908
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