NM_152384.3(BBS5):c.258+2T>C AND Bardet-Biedl syndrome 5
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 1, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000678527.2
Allele description [Variation Report for NM_152384.3(BBS5):c.258+2T>C]
NM_152384.3(BBS5):c.258+2T>C
Condition(s)
-
Homo sapiens Bcl2 modifying factor (BMF), mRNA
Homo sapiens Bcl2 modifying factor (BMF), mRNAgi|21071075|ref|NM_033503.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jun 10, 2023