chr22:22127164:C>T Detail (hg19) (MAPK1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr22:22,127,164-22,127,164 |
| hg38 | chr22:21,772,875-21,772,875 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_138957.3:c.964G>A | NP_620407.1:p.Glu322Lys |
| NM_002745.4:c.964G>A | NP_002736.3:p.Glu322Lys | |
| Ensemble | ENST00000398822.7:c.964G>A | ENST00000398822.7:p.Glu322Lys |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 4 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
body of stomach |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
intrahepatic bile duct carcinoma |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
pyloric antrum |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
bronchus or lung, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of uterine cervix |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Squamous cell carcinoma of the head and neck |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided |
somatic
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| head and neck squamous cell carcinoma | Erlotinib | C |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 4 | 26181029 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Case report of a patient with stage IVA HNSCC with near-complete histologic response after 13 days o... | CIViC Evidence | Detail |
| NM_002745.5(MAPK1):c.964G>A (p.Glu322Lys) AND Neoplasm of uterine cervix | ClinVar | Detail |
| NM_002745.5(MAPK1):c.964G>A (p.Glu322Lys) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
| NM_002745.5(MAPK1):c.964G>A (p.Glu322Lys) AND Transitional cell carcinoma of the bladder | 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
- rs1057519911 dbSNP
- Genome
- hg19
- Position
- chr22:22,127,164-22,127,164
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Variant (CIViC) (CIViC Variant)
- E322K
- Transcript 1 (CIViC Variant)
- ENST00000215832.6
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/320
Genome browser