chr12:25398282:C>G Detail (hg19) (KRAS)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr12:25,398,282-25,398,282 |
hg38 | chr12:25,245,348-25,245,348 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_004985.4:c.37G>C | NP_004976.2:p.Gly13Arg |
NM_033360.3:c.37G>C | NP_203524.1:p.Gly13Arg | |
Ensemble | ENST00000256078.10:c.37G>C | ENST00000256078.10:p.Gly13Arg |
Summary
MGeND
Clinical significance |
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Variant entry | 3 |
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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Myelodysplastic syndromes |
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MGS000005
(TMGS000006) |
Keizo Horibe | National Hospital Organization Nagoya Medical Center | ||||
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colorectal cancer |
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MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
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malignant neoplasm of rectum |
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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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2005-10-25 | no assertion criteria provided | pilocytic astrocytoma |
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Detail |
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2011-04-15 | criteria provided, single submitter | Non-small cell lung carcinoma |
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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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2014-10-02 | no assertion criteria provided | Thyroid tumor |
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Detail |
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no assertion criteria provided | not provided |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.155 | squamous cell carcinoma | KRAS mutations were found in 18 (7.2%) patients (15 in adenocarcinoma, 2 in squa... | BeFree | 24040454 | Detail |
0.309 | adenocarcinoma | KRAS mutations were found in 18 (7.2%) patients (15 in adenocarcinoma, 2 in squa... | BeFree | 24040454 | Detail |
0.241 | pilocytic astrocytoma | NA | CLINVAR | Detail | |
0.149 | Carcinogenesis | This system allowed us to rapidly compare the ability of 12 different KRAS mutat... | BeFree | 25065594 | Detail |
0.240 | RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER | NA | CLINVAR | Detail | |
0.321 | Non-small cell lung carcinoma | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_004985.5(KRAS):c.37G>C (p.Gly13Arg) AND Pilocytic astrocytoma | ClinVar | Detail |
NM_004985.5(KRAS):c.37G>C (p.Gly13Arg) AND Non-small cell lung carcinoma | ClinVar | Detail |
NM_004985.5(KRAS):c.37G>C (p.Gly13Arg) AND Neoplasm of the large intestine | ClinVar | Detail |
NM_004985.5(KRAS):c.37G>C (p.Gly13Arg) AND Thyroid tumor | ClinVar | Detail |
NM_004985.5(KRAS):c.37G>C (p.Gly13Arg) AND not provided | ClinVar | Detail |
KRAS mutations were found in 18 (7.2%) patients (15 in adenocarcinoma, 2 in squamous cell carcinoma ... | DisGeNET | Detail |
KRAS mutations were found in 18 (7.2%) patients (15 in adenocarcinoma, 2 in squamous cell carcinoma ... | 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 |
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
- rs121913535 dbSNP
- Genome
- hg19
- Position
- chr12:25,398,282-25,398,282
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- Variant (CIViC) (CIViC Variant)
- G13R
- Transcript 1 (CIViC Variant)
- ENST00000256078.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1395
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