chr7:55242487:C>T Detail (hg19) (EGFR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:55,242,487-55,242,487 |
| hg38 | chr7:55,174,794-55,174,794 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005228.3:c.2257C>T | NP_005219.2:p.Pro753Ser |
| NM_001346897.1:c.2122C>T | NP_001333826.1:p.Pro708Ser | |
| Ensemble | ENST00000275493.7:c.2257C>T | ENST00000275493.7:p.Pro753Ser |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 3 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
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
|
ill-defined sites within the digestive system |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
appendix |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
anal canal |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| skin squamous cell carcinoma | Cetuximab,Sirolimus | C |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 24934779 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| 72-year old male patient presents with SCC with a mutation profile consistent with UV exposure. Sequ... | CIViC Evidence | Detail |
| NM_005228.5(EGFR):c.2257C>T (p.Pro753Ser) AND Non-small cell lung carcinoma | ClinVar | Detail |
| NM_005228.5(EGFR):c.2257C>T (p.Pro753Ser) AND Head and neck neoplasm | 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
- rs121913231 dbSNP
- Genome
- hg19
- Position
- chr7:55,242,487-55,242,487
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8648
- East Asian Allele Counts (ExAC)
- 1
- East Asian Heterozygous Counts (ExAC)
- 1
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 1.1563367252543941E-4
- Chromosome Counts in All Race (ExAC)
- 121312
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.243207596940122E-6
- Variant (CIViC) (CIViC Variant)
- P753S
- Transcript 1 (CIViC Variant)
- ENST00000275493.2
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/460
Genome browser