NM_004656.4(BAP1):c.1645G>A (p.Ala549Thr) AND BAP1-related tumor predisposition syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 20, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001366698.3
Allele description [Variation Report for NM_004656.4(BAP1):c.1645G>A (p.Ala549Thr)]
NM_004656.4(BAP1):c.1645G>A (p.Ala549Thr)
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
-
IZUMO1R [Mustela putorius furo]
IZUMO1R [Mustela putorius furo]Gene ID:101678569Gene
-
PIP4K2A [Odobenus rosmarus divergens]
PIP4K2A [Odobenus rosmarus divergens]Gene ID:101366625Gene
-
B4GALT7 [Leptosomus discolor]
B4GALT7 [Leptosomus discolor]Gene ID:104341468Gene
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Last Updated: Jul 15, 2024