NM_024649.5(BBS1):c.270C>T (p.Ala90=) AND Bardet-Biedl syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 25, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001405817.7
Allele description [Variation Report for NM_024649.5(BBS1):c.270C>T (p.Ala90=)]
NM_024649.5(BBS1):c.270C>T (p.Ala90=)
Condition(s)
-
JGI_CAAK5871.fwd NIH_XGC_tropBrn3 Xenopus tropicalis cDNA clone IMAGE:7656773 5'...
JGI_CAAK5871.fwd NIH_XGC_tropBrn3 Xenopus tropicalis cDNA clone IMAGE:7656773 5', mRNA sequencegi|58405397|gnl|dbEST|27519973|gb|C 64.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024