NM_031885.5(BBS2):c.284_285del (p.Gly95fs) AND Bardet-Biedl syndrome 2
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 12, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003465049.1
Allele description [Variation Report for NM_031885.5(BBS2):c.284_285del (p.Gly95fs)]
NM_031885.5(BBS2):c.284_285del (p.Gly95fs)
Condition(s)
-
Homo sapiens regucalcin (senescence marker protein-30) (RGN), transcript variant...
Homo sapiens regucalcin (senescence marker protein-30) (RGN), transcript variant 2, mRNAgi|23111020|ref|NM_152869.1|Nucleotide
-
Homo sapiens regucalcin (senescence marker protein-30), mRNA (cDNA clone MGC:877...
Homo sapiens regucalcin (senescence marker protein-30), mRNA (cDNA clone MGC:87766 IMAGE:6186669), complete cdsgi|49118182|gb|BC073173.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Dec 30, 2023