chr15:66435113:A>C Detail (hg38) (MAP2K1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr15:66,727,451-66,727,451 View the variant detail on this assembly version. |
| hg38 | chr15:66,435,113-66,435,113 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002755.3:c.167A>C | NP_002746.1:p.Gln56Pro |
| Ensemble | ENST00000693150.1:c.101A>C | ENST00000693150.1:p.Gln34Pro |
| ENST00000307102.10:c.167A>C | ENST00000307102.10:p.Gln56Pro |
Summary
MGeND
| Clinical significance |
Likely pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Likely pathogenic
|
colorectal neoplasms, hereditary nonpolyposis |
somatic
|
MGS000043
(TMGS000096) |
Kohei Miyazono | Tokyo University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2011-05-24 | criteria provided, single submitter | Non-small cell lung carcinoma |
germline
somatic
|
Detail |
|
Likely pathogenic
|
2014-12-26 | no assertion criteria provided | melanoma |
somatic
|
Detail |
|
Pathogenic
|
2020-06-23 | no assertion criteria provided | melorheostosis |
somatic
|
Detail |
|
Pathogenic
|
2021-07-02 | criteria provided, single submitter | not provided |
somatic
|
Detail |
CIViC
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| A375 cells expressing MAP2K1 Q56P mutation conferred an approximately 100-fold increased resistance ... | CIViC Evidence | Detail |
| NM_002755.4(MAP2K1):c.167A>C (p.Gln56Pro) AND Non-small cell lung carcinoma | ClinVar | Detail |
| NM_002755.4(MAP2K1):c.167A>C (p.Gln56Pro) AND Melanoma | ClinVar | Detail |
| NM_002755.4(MAP2K1):c.167A>C (p.Gln56Pro) AND Melorheostosis | ClinVar | Detail |
| NM_002755.4(MAP2K1):c.167A>C (p.Gln56Pro) AND not provided | ClinVar | 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
- rs1057519729 dbSNP
- Genome
- hg38
- Position
- chr15:66,435,113-66,435,113
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
- Variant (CIViC) (CIViC Variant)
- Q56P
- Transcript 1 (CIViC Variant)
- ENST00000307102.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/83
- Summary (CIViC Variant)
- MAP2K1 Q56P is a recurrent mutation in melanoma and gastric cancer. This mutation has been shown to confer considerable resistance to AZD6244 treatment of melanoma cell lines.
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