Annotation Detail
Information
- Associated Genes
- ERBB2
- Associated Variants
-
ERBB2 p.Val777Leu (p.V777L)
(
ENST00000269571.10,
ENST00000406381.6,
ENST00000445658.6,
ENST00000541774.5,
ENST00000584450.5,
ENST00000584601.5 )
ERBB2 p.Val777Leu (p.V777L) ( ENST00000584601.5, ENST00000269571.10, ENST00000406381.6, ENST00000445658.6, ENST00000541774.5, ENST00000584450.5 ) - Associated Disease
- Breast neoplasm
- Source Database
- ClinVar
- Description
- NM_004448.4(ERBB2):c.2329G>T (p.Val777Leu) AND Breast neoplasm
- ClinVar Allele ID
- 54158
- ClinVar RefSeq Alternation Syntax
- NR_110535.2:n.2567G>T
- ClinVar RefSeq Alternation Syntax
- NM_001382795.1:c.2281G>T
- ClinVar RefSeq Alternation Syntax
- NM_001382788.1:c.2359G>T
- ClinVar RefSeq Alternation Syntax
- NM_001382793.1:c.2287G>T
- ClinVar RefSeq Alternation Syntax
- NM_001382799.1:c.2149G>T
- ClinVar RefSeq Alternation Syntax
- NM_001382794.1:c.2287G>T
- ClinVar RefSeq Alternation Syntax
- NM_001382800.1:c.2308-302G>T
- ClinVar RefSeq Alternation Syntax
- NM_001289936.2:c.2284G>T
- ClinVar RefSeq Alternation Syntax
- NM_001382785.1:c.2431G>T
- ClinVar RefSeq Alternation Syntax
- NM_001382806.1:c.1291G>T
- ClinVar RefSeq Alternation Syntax
- NM_001382803.1:c.2287G>T
- ClinVar RefSeq Alternation Syntax
- NM_001382782.1:c.2239G>T
- ClinVar RefSeq Alternation Syntax
- NM_001382786.1:c.2410G>T
- ClinVar RefSeq Alternation Syntax
- NM_001382783.1:c.2239G>T
- ClinVar RefSeq Alternation Syntax
- NM_001382801.1:c.2281G>T
- ClinVar RefSeq Alternation Syntax
- NM_001382784.1:c.2446G>T
- ClinVar RefSeq Alternation Syntax
- NM_001382798.1:c.2329G>T
- ClinVar RefSeq Alternation Syntax
- NM_001382804.1:c.1501G>T
- ClinVar RefSeq Alternation Syntax
- NM_001382796.1:c.2329G>T
- ClinVar RefSeq Alternation Syntax
- NM_001005862.3:c.2239G>T
- ClinVar RefSeq Alternation Syntax
- NM_001382802.1:c.2071G>T
- ClinVar RefSeq Alternation Syntax
- NM_001382797.1:c.2230G>T
- ClinVar RefSeq Alternation Syntax
- NM_001382789.1:c.2350G>T
- ClinVar RefSeq Alternation Syntax
- NM_001382787.1:c.2404G>T
- ClinVar RefSeq Alternation Syntax
- NM_004448.4:c.2329G>T
- ClinVar RefSeq Alternation Syntax
- NM_001289937.2:c.2329G>T
- ClinVar RefSeq Alternation Syntax
- NM_001382792.1:c.2293G>T
- ClinVar RefSeq Alternation Syntax
- NM_001382790.1:c.2326G>T
- ClinVar RefSeq Alternation Syntax
- NM_001382805.1:c.2208+1087G>T
- ClinVar RefSeq Alternation Syntax
- NM_001382791.1:c.2320G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2016-05-31
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000428506
- ClinVar Disease
- Breast neoplasm
- Observed Origin Sample
- somatic
Drugs