chr17:37881440:C>T Detail (hg19) (ERBB2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:37,881,440-37,881,440 |
hg38 | chr17:39,725,187-39,725,187 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_004448.3:c.2632C>T | NP_004439.2:p.His878Tyr |
NM_001289937.1:c.2632C>T | NP_001276866.1:p.His878Tyr | |
NM_001005862.2:c.2542C>T | NP_001005862.1:p.His848Tyr |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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colon, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
[No Data.]
CIViC
Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
---|---|---|---|---|---|---|---|---|---|
hepatocellular carcinoma | Lapatinib | D |
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Sensitivity/Response | Somatic | 3 | 22046346 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Cell proliferation analysis showed that the ERBB2-H878Y mutant had the highest sensitivity against l... | 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
- hg19
- Position
- chr17:37,881,440-37,881,440
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Variant (CIViC) (CIViC Variant)
- H878Y
- Transcript 1 (CIViC Variant)
- ENST00000269571.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/874
Genome browser