NM_004656.4(BAP1):c.1505C>A (p.Ala502Asp) AND BAP1-related tumor predisposition syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003057924.3
Allele description [Variation Report for NM_004656.4(BAP1):c.1505C>A (p.Ala502Asp)]
NM_004656.4(BAP1):c.1505C>A (p.Ala502Asp)
Condition(s)
- Name:
- BAP1-related tumor predisposition syndrome (TPDS1)
- Synonyms:
- Tumor predisposition syndrome; Tumor susceptibility linked to germline BAP1 mutations; BAP1 tumor predisposition syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0013692; MedGen: C3280492; Orphanet: 289539; OMIM: 614327
-
150240 (1)
OMIM
-
IREB2 protein [Homo sapiens]
IREB2 protein [Homo sapiens]gi|17389724|gb|AAH17880.1|Protein
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Last Updated: Sep 29, 2024