Annotation Detail
Information
- Associated Genes
- ERBB2
- Associated Variants
-
ERBB2 p.Leu755_Thr759del (p.L755_T759del)
(
ENST00000406381.6,
ENST00000445658.6,
ENST00000269571.10,
ENST00000541774.5,
ENST00000584450.5,
ENST00000584601.5 )
ERBB2 p.Leu755_Thr759del (p.L755_T759del) ( ENST00000269571.10, ENST00000406381.6, ENST00000445658.6, ENST00000541774.5, ENST00000584450.5, ENST00000584601.5 ) - Associated Disease
- Breast neoplasm
- Source Database
- ClinVar
- Description
- NM_004448.4(ERBB2):c.2264_2278del (p.Leu755_Thr759del) AND Breast neoplasm
- ClinVar Allele ID
- 362869
- ClinVar RefSeq Alternation Syntax
- NM_001382783.1:c.2174_2188del
- ClinVar RefSeq Alternation Syntax
- NM_001382796.1:c.2264_2278del
- ClinVar RefSeq Alternation Syntax
- NM_001382793.1:c.2222_2236del
- ClinVar RefSeq Alternation Syntax
- NM_001382805.1:c.2208+307_2208+321del
- ClinVar RefSeq Alternation Syntax
- NM_001382806.1:c.1226_1240del
- ClinVar RefSeq Alternation Syntax
- NM_001382786.1:c.2345_2359del
- ClinVar RefSeq Alternation Syntax
- NR_110535.2:n.2502_2516del
- ClinVar RefSeq Alternation Syntax
- NM_001382803.1:c.2222_2236del
- ClinVar RefSeq Alternation Syntax
- NM_001382791.1:c.2255_2269del
- ClinVar RefSeq Alternation Syntax
- NM_001382785.1:c.2366_2380del
- ClinVar RefSeq Alternation Syntax
- NM_001382784.1:c.2381_2395del
- ClinVar RefSeq Alternation Syntax
- NM_001382789.1:c.2285_2299del
- ClinVar RefSeq Alternation Syntax
- NM_001382794.1:c.2222_2236del
- ClinVar RefSeq Alternation Syntax
- NM_001289936.2:c.2219_2233del
- ClinVar RefSeq Alternation Syntax
- NM_001005862.3:c.2174_2188del
- ClinVar RefSeq Alternation Syntax
- NM_001382790.1:c.2261_2275del
- ClinVar RefSeq Alternation Syntax
- NM_001382787.1:c.2339_2353del
- ClinVar RefSeq Alternation Syntax
- NM_001382797.1:c.2208+307_2208+321del
- ClinVar RefSeq Alternation Syntax
- NM_001382798.1:c.2264_2278del
- ClinVar RefSeq Alternation Syntax
- NM_001382792.1:c.2228_2242del
- ClinVar RefSeq Alternation Syntax
- NM_001289937.2:c.2264_2278del
- ClinVar RefSeq Alternation Syntax
- NM_001382782.1:c.2174_2188del
- ClinVar RefSeq Alternation Syntax
- NM_001382804.1:c.1436_1450del
- ClinVar RefSeq Alternation Syntax
- NM_004448.4:c.2264_2278del
- ClinVar RefSeq Alternation Syntax
- NM_001382799.1:c.2084_2098del
- ClinVar RefSeq Alternation Syntax
- NM_001382801.1:c.2216_2230del
- ClinVar RefSeq Alternation Syntax
- NM_001382788.1:c.2294_2308del
- ClinVar RefSeq Alternation Syntax
- NM_001382795.1:c.2216_2230del
- ClinVar RefSeq Alternation Syntax
- NM_001382800.1:c.2264_2278del
- ClinVar RefSeq Alternation Syntax
- NM_001382802.1:c.2006_2020del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2014-10-02
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000432652
- ClinVar Disease
- Breast neoplasm
- Observed Origin Sample
- somatic
Drugs