Annotation Detail
Information
- Associated Genes
- BARD1
- Associated Variants
-
BARD1 p.Tyr404Ter (p.Y404*)
(
ENST00000260947.9,
ENST00000421162.2,
ENST00000613374.5,
ENST00000613706.5,
ENST00000617164.5,
ENST00000619009.5,
ENST00000620057.4 )
BARD1 p.Tyr404Ter (p.Y404*) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 ) - Associated Disease
- BARD1-related disorder
- Source Database
- ClinVar
- Description
- NM_000465.4(BARD1):c.1212C>G (p.Tyr404Ter) AND BARD1-related disorder
- ClinVar Allele ID
- 152448
- ClinVar RefSeq Alternation Syntax
- NM_001282548.2:c.159-28107C>G
- ClinVar RefSeq Alternation Syntax
- NM_001282545.2:c.215+16399C>G
- ClinVar RefSeq Alternation Syntax
- NM_000465.4:c.1212C>G
- ClinVar RefSeq Alternation Syntax
- NR_104215.2:n.1120C>G
- ClinVar RefSeq Alternation Syntax
- NM_001282549.2:c.364+11635C>G
- ClinVar RefSeq Alternation Syntax
- NM_001282543.2:c.1155C>G
- ClinVar RefSeq Alternation Syntax
- NR_104212.2:n.1177C>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-12-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003945152
- ClinVar Disease
- BARD1-related disorder
- Observed Origin Sample
- germline
Drugs