NM_031885.5(BBS2):c.342A>G (p.Arg114=) AND Bardet-Biedl syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 28, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002159466.6
Allele description [Variation Report for NM_031885.5(BBS2):c.342A>G (p.Arg114=)]
NM_031885.5(BBS2):c.342A>G (p.Arg114=)
Condition(s)
-
LOW QUALITY PROTEIN: C-terminal binding protein 2, like [Solea senegalensis]
LOW QUALITY PROTEIN: C-terminal binding protein 2, like [Solea senegalensis]gi|2105420497|ref|XP_043870294.1|Protein
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Last Updated: Sep 29, 2024