NM_033028.5(BBS4):c.514dup (p.Ile172fs) AND Bardet-Biedl syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002638103.2
Allele description [Variation Report for NM_033028.5(BBS4):c.514dup (p.Ile172fs)]
NM_033028.5(BBS4):c.514dup (p.Ile172fs)
Condition(s)
-
eggcsite.comMKs (0)
BioProject
-
Gene Links for GEO Profiles (Select 28703841) (1)
Gene
-
CCNE1 cyclin E1 [Homo sapiens]
CCNE1 cyclin E1 [Homo sapiens]Gene ID:898Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Feb 20, 2024