NM_152618.3(BBS12):c.1001A>G (p.Tyr334Cys) AND Bardet-Biedl syndrome 12
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001331783.2
Allele description [Variation Report for NM_152618.3(BBS12):c.1001A>G (p.Tyr334Cys)]
NM_152618.3(BBS12):c.1001A>G (p.Tyr334Cys)
Condition(s)
-
Homo sapiens tubulin gamma 1 (TUBG1), mRNA
Homo sapiens tubulin gamma 1 (TUBG1), mRNAgi|1519315588|ref|NM_001070.5|Nucleotide
-
Stub1 STIP1 homology and U-Box containing protein 1 [Mus musculus]
Stub1 STIP1 homology and U-Box containing protein 1 [Mus musculus]Gene ID:56424Gene
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024