NM_004656.4(BAP1):c.1559C>T (p.Ser520Phe) AND BAP1-related tumor predisposition syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001246520.3
Allele description [Variation Report for NM_004656.4(BAP1):c.1559C>T (p.Ser520Phe)]
NM_004656.4(BAP1):c.1559C>T (p.Ser520Phe)
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
-
frataxin homolog, mitochondrial [Anopheles moucheti]
frataxin homolog, mitochondrial [Anopheles moucheti]gi|2429179552|ref|XP_052901266.1|Protein
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Homo sapiens chromosome 9 open reading frame 5 mRNA, complete cds
Homo sapiens chromosome 9 open reading frame 5 mRNA, complete cdsgi|12002679|gb|AF153415.1|Nucleotide
-
Decreased fertility
Decreased fertilityMedGen
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See more...Assertion and evidence details
Last Updated: Aug 11, 2024