Annotation Detail
Information
- Associated Genes
- BARD1
- Associated Variants
-
BARD1 p.Gln564Ter (p.Q564*)
(
ENST00000260947.9,
ENST00000421162.2,
ENST00000613374.5,
ENST00000613706.5,
ENST00000617164.5,
ENST00000619009.5,
ENST00000620057.4 )
BARD1 p.Gln564Ter (p.Q564*) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 ) - Associated Disease
- endometrial carcinoma
- Source Database
- ClinVar
- Description
- NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter) AND Endometrial carcinoma
- ClinVar Allele ID
- 133177
- ClinVar RefSeq Alternation Syntax
- NR_104215.2:n.1598C>T
- ClinVar RefSeq Alternation Syntax
- NM_001282548.2:c.280C>T
- ClinVar RefSeq Alternation Syntax
- NM_001282543.2:c.1633C>T
- ClinVar RefSeq Alternation Syntax
- NM_001282545.2:c.337C>T
- ClinVar RefSeq Alternation Syntax
- NR_104212.2:n.1655C>T
- ClinVar RefSeq Alternation Syntax
- NR_104216.2:n.854C>T
- ClinVar RefSeq Alternation Syntax
- NM_000465.4:c.1690C>T
- ClinVar RefSeq Alternation Syntax
- NM_001282549.2:c.365-15334C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-02-21
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003128144
- ClinVar Disease
- Endometrial carcinoma
- Observed Origin Sample
- germline
Drugs