Annotation Detail
Information
- Associated Genes
- ESR1
- Associated Variants
-
ESR1 p.Ser463Pro (p.S463P)
(
ENST00000456483.3,
ENST00000206249.8,
ENST00000338799.9,
ENST00000406599.5,
ENST00000427531.6,
ENST00000440973.5,
ENST00000443427.5 )
ESR1 p.Ser463Pro (p.S463P) ( ENST00000206249.8, ENST00000338799.9, ENST00000406599.5, ENST00000427531.6, ENST00000440973.5, ENST00000443427.5, ENST00000456483.3 ) - Associated Disease
- Breast neoplasm
- Source Database
- ClinVar
- Description
- NM_000125.4(ESR1):c.1387T>C (p.Ser463Pro) AND Breast neoplasm
- ClinVar Allele ID
- 362813
- ClinVar RefSeq Alternation Syntax
- NM_001385569.1:c.1387T>C
- ClinVar RefSeq Alternation Syntax
- NM_001385568.1:c.1387T>C
- ClinVar RefSeq Alternation Syntax
- NM_000125.4:c.1387T>C
- ClinVar RefSeq Alternation Syntax
- NM_001122740.2:c.1387T>C
- ClinVar RefSeq Alternation Syntax
- NM_001291230.2:c.1393T>C
- ClinVar RefSeq Alternation Syntax
- NM_001122741.2:c.1387T>C
- ClinVar RefSeq Alternation Syntax
- NM_001122742.2:c.1387T>C
- ClinVar RefSeq Alternation Syntax
- NM_001385570.1:c.1370-4330T>C
- ClinVar RefSeq Alternation Syntax
- NM_001385571.1:c.1370-4330T>C
- ClinVar RefSeq Alternation Syntax
- NM_001385572.1:c.1370-4330T>C
- ClinVar RefSeq Alternation Syntax
- NM_001291241.2:c.1384T>C
- ClinVar RefSeq Alternation Syntax
- NM_001328100.2:c.851-30864T>C
- 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/RCV000438802
- ClinVar Disease
- Breast neoplasm
- Observed Origin Sample
- somatic
Drugs