NM_033028.5(BBS4):c.712-15G>C AND Bardet-Biedl syndrome 4
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002500169.1
Allele description [Variation Report for NM_033028.5(BBS4):c.712-15G>C]
NM_033028.5(BBS4):c.712-15G>C
Condition(s)
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Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), transcript variant...
Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), transcript variant 12, mRNAgi|1135449738|ref|NM_001348322.1|Nucleotide
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Similar Compounds for PubChem Compound (Select 57336513) (0)
PubChem Compound
-
Hydronephrosis (6)
MeSH
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neuroligin-1 isoform X6 [Rattus norvegicus]
neuroligin-1 isoform X6 [Rattus norvegicus]gi|2678916405|ref|XP_063137234.1|Protein
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BBS4[gene] (779)
ClinVar
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Last Updated: Feb 20, 2024