NM_198428.3(BBS9):c.-12+7T>C AND Bardet-Biedl syndrome 9
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000262045.5
Allele description [Variation Report for NM_198428.3(BBS9):c.-12+7T>C]
NM_198428.3(BBS9):c.-12+7T>C
Condition(s)
-
catalase [Homo sapiens]
catalase [Homo sapiens]gi|4557014|ref|NP_001743.1|Protein
-
E3 ubiquitin-protein ligase SH3RF2 [Homo sapiens]
E3 ubiquitin-protein ligase SH3RF2 [Homo sapiens]gi|1519315110|ref|NP_689763.4|Protein
-
unnamed protein product [Homo sapiens]
unnamed protein product [Homo sapiens]gi|193787110|dbj|BAG52316.1|Protein
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Last Updated: Dec 24, 2023