Annotation Detail
Information
- Associated Genes
- ESR2
- Associated Variants
-
ESR2 p.Val328= (p.V328=)
(
ENST00000556275.5,
ENST00000553796.5,
ENST00000353772.7,
ENST00000341099.6,
ENST00000554572.5,
ENST00000555278.5,
ENST00000557772.5,
ENST00000358599.9,
ENST00000267525.10 )
ESR2 p.Val328= (p.V328=) ( ENST00000267525.10, ENST00000341099.6, ENST00000353772.7, ENST00000358599.9, ENST00000553796.5, ENST00000554572.5, ENST00000555278.5, ENST00000556275.5, ENST00000557772.5 ) - Associated Disease
- ESR2-related disorder
- Source Database
- ClinVar
- Description
- NM_001437.3(ESR2):c.984G>A (p.Val328=) AND ESR2-related disorder
- ClinVar Allele ID
- 1221477
- ClinVar RefSeq Alternation Syntax
- NR_073497.1:n.952G>A
- ClinVar RefSeq Alternation Syntax
- NM_001040275.1:c.984G>A
- ClinVar RefSeq Alternation Syntax
- NM_001271876.1:c.984G>A
- ClinVar RefSeq Alternation Syntax
- NM_001271877.1:c.952+3116G>A
- ClinVar RefSeq Alternation Syntax
- NM_001437.3:c.984G>A
- ClinVar RefSeq Alternation Syntax
- NM_001214902.1:c.984G>A
- ClinVar RefSeq Alternation Syntax
- NM_001291712.2:c.984G>A
- ClinVar RefSeq Alternation Syntax
- NM_001291723.1:c.984G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-02-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003980783
- ClinVar Disease
- ESR2-related disorder
- Observed Origin Sample
- germline
Drugs