Annotation Detail
Information
- Associated Genes
- ESR1
- Associated Variants
-
ESR1 p.Ser10= (p.S10=)
(
ENST00000206249.8,
ENST00000338799.9,
ENST00000406599.5,
ENST00000440973.5,
ENST00000443427.5,
ENST00000456483.3 )
ESR1 p.Ser10= (p.S10=) ( ENST00000206249.8, ENST00000338799.9, ENST00000406599.5, ENST00000440973.5, ENST00000443427.5, ENST00000456483.3 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000125.4(ESR1):c.30T>C (p.Ser10=) AND not provided
- ClinVar Allele ID
- 1238788
- ClinVar RefSeq Alternation Syntax
- NM_000125.4:c.30T>C
- ClinVar RefSeq Alternation Syntax
- NM_001385572.1:c.30T>C
- ClinVar RefSeq Alternation Syntax
- NM_001122741.2:c.30T>C
- ClinVar RefSeq Alternation Syntax
- NM_001385568.1:c.30T>C
- ClinVar RefSeq Alternation Syntax
- NM_001122740.2:c.30T>C
- ClinVar RefSeq Alternation Syntax
- NM_001291230.2:c.30T>C
- ClinVar RefSeq Alternation Syntax
- NM_001385569.1:c.30T>C
- ClinVar RefSeq Alternation Syntax
- NM_001385570.1:c.30T>C
- ClinVar RefSeq Alternation Syntax
- NM_001385571.1:c.30T>C
- ClinVar RefSeq Alternation Syntax
- NM_001291241.2:c.30T>C
- ClinVar RefSeq Alternation Syntax
- NM_001122742.2:c.30T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-08-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001655332
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs