chr15:66727451:A>C Detail (hg19) (MAP2K1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr15:66,727,451-66,727,451 |
hg38 | chr15:66,435,113-66,435,113 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_002755.3:c.167A>C | NP_002746.1:p.Gln56Pro |
Ensemble | ENST00000307102.10:c.167A>C | ENST00000307102.10:p.Gln56Pro |
ENST00000689951.1:c.167A>C | ENST00000689951.1:p.Gln56Pro |
Summary
MGeND
Clinical significance |
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Variant entry | 7 |
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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ascending colon |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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colon, unspecified |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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Colorectal |
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MGS000038
(TMGS000091) |
Manabu Muto Ichiro Kinoshita |
Kyoto University Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University |
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ascending 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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bronchus or lung, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2011-05-24 | criteria provided, single submitter | Non-small cell lung carcinoma |
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Detail |
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2014-12-26 | no assertion criteria provided | melanoma |
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Detail |
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2020-06-23 | no assertion criteria provided | melorheostosis |
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Detail |
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2021-07-02 | criteria provided, single submitter | not provided |
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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
- hg19
- Position
- chr15:66,727,451-66,727,451
- 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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