chr12:56085067:C>G Detail (hg38) (ERBB3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:56,478,851-56,478,851 View the variant detail on this assembly version. |
| hg38 | chr12:56,085,067-56,085,067 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001982.3:c.307C>G | NP_001973.2:p.Arg103Gly |
| NM_001005915.1:c.307C>G | NP_001005915.1:p.Arg103Gly | |
| Ensemble | ENST00000267101.8:c.307C>G | ENST00000267101.8:p.Arg103Gly |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| transitional cell carcinoma | Afatinib | B |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 27044931 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In this phase II trial, patients with metastatic platinum-refractory urothelial carcinoma (UC) recei... | CIViC Evidence | 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
- -
- Genome
- hg38
- Position
- chr12:56,085,067-56,085,067
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- Variant (CIViC) (CIViC Variant)
- R103G
- Transcript 1 (CIViC Variant)
- ENST00000267101.3
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/702
Genome browser