Annotation Detail
Information
- Associated Genes
- BBS1 ZDHHC24
- Associated Variants
-
BBS1 p.Met390Arg (p.M390R), ENSG00000256349 p.Met427Arg (p.M427R)
(
ENST00000393994.4,
ENST00000630659.2,
ENST00000318312.12,
ENST00000455748.6,
ENST00000526986.5 )
BBS1 p.Met390Arg (p.M390R), ENSG00000256349 p.Met427Arg (p.M427R) ( ENST00000318312.12, ENST00000393994.4, ENST00000455748.6, ENST00000630659.2, ENST00000526986.5 ) - Associated Disease
- Bardet-Biedl syndrome
- Source Database
- ClinVar
- Description
- NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) AND Bardet-Biedl syndrome
- ClinVar Allele ID
- 27182
- ClinVar RefSeq Alternation Syntax
- NM_024649.5:c.1169T>G
- ClinVar RefSeq Alternation Syntax
- NM_001348571.2:c.*21+755A>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-31
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000174408
- ClinVar Disease
- Bardet-Biedl syndrome
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs