Annotation Detail

Information
Associated Genes
ESR2
Associated Variants
ESR2 c.-91+2334T>G ( ENST00000554572.5, ENST00000358599.9 )
ESR2 c.-91+2334T>G ( ENST00000358599.9, ENST00000554572.5 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_001291712.2(ESR2):c.-91+2334T>G AND not provided
ClinVar Allele ID
1225189
ClinVar RefSeq Alternation Syntax
NM_001291712.2:c.-91+2334T>G
ClinVar RefSeq Alternation Syntax
NM_001291723.1:c.-90-12124T>G
Clinical Significance Description
Benign
Clinical Significance Last Update
2019-10-16
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001619667
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs