Annotation Detail
Information
- Associated Genes
- BOLA3
- Associated Variants
-
BOLA3 c.258+248T>A
(
ENST00000295326.4,
ENST00000327428.10 )
BOLA3 c.258+248T>A ( ENST00000295326.4, ENST00000327428.10 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_212552.3(BOLA3):c.258+248T>A AND not provided
- ClinVar Allele ID
- 659357
- ClinVar RefSeq Alternation Syntax
- NM_001035505.2:c.169+3165T>A
- ClinVar RefSeq Alternation Syntax
- NM_212552.3:c.258+248T>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-06-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000843576
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs