chr12:25227343:G>C Detail (hg38) (KRAS)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr12:25,380,277-25,380,277 View the variant detail on this assembly version. |
hg38 | chr12:25,227,343-25,227,343 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_004985.4:c.181C>G | NP_004976.2:p.Gln61Glu |
NM_033360.3:c.181C>G | NP_203524.1:p.Gln61Glu | |
Ensemble | ENST00000256078.10:c.181C>G | ENST00000256078.10:p.Gln61Glu |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2015-07-14 | no assertion criteria provided | Neoplasm of the large intestine |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | Sezary syndrome | One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... | BeFree | 21209378 | Detail |
<0.001 | Sezary syndrome | One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... | BeFree | 21209378 | Detail |
<0.001 | Sezary syndrome | One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... | BeFree | 21209378 | Detail |
<0.001 | Sezary syndrome | One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... | BeFree | 21209378 | Detail |
0.321 | Non-small cell lung carcinoma | NA | CLINVAR | Detail | |
<0.001 | mycosis fungoides | One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... | BeFree | 21209378 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_033360.4(KRAS):c.181C>G (p.Gln61Glu) AND Neoplasm of the large intestine | ClinVar | Detail |
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... | DisGeNET | Detail |
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... | DisGeNET | Detail |
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... | DisGeNET | Detail |
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... | DisGeNET | Detail |
NA | DisGeNET | Detail |
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... | 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
- rs121913238 dbSNP
- Genome
- hg38
- Position
- chr12:25,227,343-25,227,343
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- Variant (CIViC) (CIViC Variant)
- Q61E
- Transcript 1 (CIViC Variant)
- ENST00000256078.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1104
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