chr12:56088138:G>A Detail (hg38) (ERBB3)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr12:56,481,922-56,481,922 View the variant detail on this assembly version. |
hg38 | chr12:56,088,138-56,088,138 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001982.3:c.850G>A | NP_001973.2:p.Gly284Arg |
Ensemble | ENST00000415288.6:c.673G>A | ENST00000415288.6:p.Gly225Arg |
ENST00000267101.8:c.850G>A | ENST00000267101.8:p.Gly284Arg |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
CIViC
Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
---|---|---|---|---|---|---|---|---|---|
transitional cell carcinoma | Afatinib | B |
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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 |
NM_001982.4(ERBB3):c.850G>A (p.Gly284Arg) AND Colonic neoplasm | ClinVar | Detail |
NM_001982.4(ERBB3):c.850G>A (p.Gly284Arg) AND Neoplasm of stomach | 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
- rs1057519803 dbSNP
- Genome
- hg38
- Position
- chr12:56,088,138-56,088,138
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Variant (CIViC) (CIViC Variant)
- G284R
- Transcript 1 (CIViC Variant)
- ENST00000267101.3
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/703
Genome browser