NM_024649.5(BBS1):c.276C>T (p.Phe92=) AND Bardet-Biedl syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003635006.2
Allele description [Variation Report for NM_024649.5(BBS1):c.276C>T (p.Phe92=)]
NM_024649.5(BBS1):c.276C>T (p.Phe92=)
Condition(s)
-
Homo sapiens isolate csct_007857 mitochondrion, complete genome
Homo sapiens isolate csct_007857 mitochondrion, complete genomegi|1150596891|gb|KY410224.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024