NM_004656.4(BAP1):c.1654G>A (p.Asp552Asn) AND BAP1-related tumor predisposition syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 4, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001993641.4
Allele description [Variation Report for NM_004656.4(BAP1):c.1654G>A (p.Asp552Asn)]
NM_004656.4(BAP1):c.1654G>A (p.Asp552Asn)
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
-
LOC6607368 [Drosophila sechellia]
LOC6607368 [Drosophila sechellia]Gene ID:6607368Gene
-
Gm23673 AND (alive[prop]) (1)
Gene
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Last Updated: Sep 29, 2024