Annotation Detail
Information
- Associated Genes
- BARD1
- Associated Variants
-
BARD1 p.Val507Met (p.V507M)
(
ENST00000260947.9,
ENST00000421162.2,
ENST00000613374.5,
ENST00000613706.5,
ENST00000617164.5,
ENST00000619009.5,
ENST00000620057.4 )
BARD1 p.Val507Met (p.V507M) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_000465.4(BARD1):c.1519G>A (p.Val507Met) AND not specified
- ClinVar Allele ID
- 150471
- ClinVar RefSeq Alternation Syntax
- NM_001282549.2:c.364+24766G>A
- ClinVar RefSeq Alternation Syntax
- NM_001282545.2:c.216-14976G>A
- ClinVar RefSeq Alternation Syntax
- NM_001282548.2:c.159-14976G>A
- ClinVar RefSeq Alternation Syntax
- NR_104212.2:n.1484G>A
- ClinVar RefSeq Alternation Syntax
- NR_104216.2:n.683G>A
- ClinVar RefSeq Alternation Syntax
- NM_001282543.2:c.1462G>A
- ClinVar RefSeq Alternation Syntax
- NM_000465.4:c.1519G>A
- ClinVar RefSeq Alternation Syntax
- NR_104215.2:n.1427G>A
- Clinical Significance Description
- Benign
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000250250
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs