NM_024649.5(BBS1):c.1267A>G (p.Met423Val) AND Bardet-Biedl syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 16, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003027923.9
Allele description [Variation Report for NM_024649.5(BBS1):c.1267A>G (p.Met423Val)]
NM_024649.5(BBS1):c.1267A>G (p.Met423Val)
Condition(s)
-
transmembrane protein 31 [Homo sapiens]
transmembrane protein 31 [Homo sapiens]gi|55770866|ref|NP_872347.2|Protein
-
Dioxins and Dioxin-like Compounds
Dioxins and Dioxin-like CompoundsA group of toxic chemical compounds that share chemical structures and biological characteristics that are related to the potent carcinogen 2,3,7,8-tetrachlorodibenzo-p-dioxin...<br/>Year introduced: 2017MeSH
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See more...Assertion and evidence details
Last Updated: Sep 1, 2024