Annotation Detail
Information
- Associated Genes
- ERBB2
- Associated Variants
-
ERBB2 p.Leu755Trp (p.L755W)
(
ENST00000445658.6,
ENST00000584450.5,
ENST00000406381.6,
ENST00000584601.5,
ENST00000269571.10,
ENST00000541774.5 )
ERBB2 p.Leu755Trp (p.L755W) ( ENST00000269571.10, ENST00000406381.6, ENST00000445658.6, ENST00000541774.5, ENST00000584450.5, ENST00000584601.5 ) - Associated Disease
- Papillary renal cell carcinoma, sporadic
- Source Database
- ClinVar
- Description
- NM_004448.4(ERBB2):c.2264T>G (p.Leu755Trp) AND Papillary renal cell carcinoma, sporadic
- ClinVar Allele ID
- 363222
- ClinVar RefSeq Alternation Syntax
- NM_001382782.1:c.2174T>G
- ClinVar RefSeq Alternation Syntax
- NM_001382805.1:c.2208+307T>G
- ClinVar RefSeq Alternation Syntax
- NM_001382783.1:c.2174T>G
- ClinVar RefSeq Alternation Syntax
- NM_001382803.1:c.2222T>G
- ClinVar RefSeq Alternation Syntax
- NR_110535.2:n.2502T>G
- ClinVar RefSeq Alternation Syntax
- NM_001382788.1:c.2294T>G
- ClinVar RefSeq Alternation Syntax
- NM_001382797.1:c.2208+307T>G
- ClinVar RefSeq Alternation Syntax
- NM_004448.4:c.2264T>G
- ClinVar RefSeq Alternation Syntax
- NM_001382795.1:c.2216T>G
- ClinVar RefSeq Alternation Syntax
- NM_001382786.1:c.2345T>G
- ClinVar RefSeq Alternation Syntax
- NM_001289936.2:c.2219T>G
- ClinVar RefSeq Alternation Syntax
- NM_001382800.1:c.2264T>G
- ClinVar RefSeq Alternation Syntax
- NM_001382802.1:c.2006T>G
- ClinVar RefSeq Alternation Syntax
- NM_001382790.1:c.2261T>G
- ClinVar RefSeq Alternation Syntax
- NM_001289937.2:c.2264T>G
- ClinVar RefSeq Alternation Syntax
- NM_001382791.1:c.2255T>G
- ClinVar RefSeq Alternation Syntax
- NM_001382784.1:c.2381T>G
- ClinVar RefSeq Alternation Syntax
- NM_001382785.1:c.2366T>G
- ClinVar RefSeq Alternation Syntax
- NM_001382792.1:c.2228T>G
- ClinVar RefSeq Alternation Syntax
- NM_001382801.1:c.2216T>G
- ClinVar RefSeq Alternation Syntax
- NM_001382806.1:c.1226T>G
- ClinVar RefSeq Alternation Syntax
- NM_001382796.1:c.2264T>G
- ClinVar RefSeq Alternation Syntax
- NM_001382793.1:c.2222T>G
- ClinVar RefSeq Alternation Syntax
- NM_001382794.1:c.2222T>G
- ClinVar RefSeq Alternation Syntax
- NM_001382789.1:c.2285T>G
- ClinVar RefSeq Alternation Syntax
- NM_001382787.1:c.2339T>G
- ClinVar RefSeq Alternation Syntax
- NM_001382798.1:c.2264T>G
- ClinVar RefSeq Alternation Syntax
- NM_001382799.1:c.2084T>G
- ClinVar RefSeq Alternation Syntax
- NM_001382804.1:c.1436T>G
- ClinVar RefSeq Alternation Syntax
- NM_001005862.3:c.2174T>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2016-05-31
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000445218
- ClinVar Disease
- Papillary renal cell carcinoma, sporadic
- Observed Origin Sample
- somatic
Drugs