NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter) AND Bardet-Biedl syndrome 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003228891.1
Allele description [Variation Report for NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)]
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)
Condition(s)
-
eggc.vipxku (0)
BioProject
-
2022eggc.viprps (0)
BioProject
-
wpl eggcsite.comvtI (8)
BioProject
-
eggc.viptAU (0)
BioProject
-
eggc.vipR8E (0)
BioProject
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024