chr7:55249131:G>A Detail (hg19) (EGFR, EGFR-AS1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:55,249,131-55,249,131 |
| hg38 | chr7:55,181,438-55,181,438 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005228.3:c.2429G>A | NP_005219.2:p.Gly810Asp |
| NM_001346897.1:c.2294G>A | NP_001333826.1:p.Gly765Asp | |
| Ensemble | ENST00000275493.7:c.2429G>A | ENST00000275493.7:p.Gly810Asp |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 1 |
| 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
|
extrahepatic bile duct |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2015-07-14 | no assertion criteria provided | squamous cell carcinoma |
somatic
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_005228.5(EGFR):c.2429G>A (p.Gly810Asp) AND Squamous cell carcinoma | 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
- rs121913431 dbSNP
- Genome
- hg19
- Position
- chr7:55,249,131-55,249,131
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser