NM_004656.4(BAP1):c.1732G>T (p.Gly578Cys) AND BAP1-related tumor predisposition syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003861073.2
Allele description [Variation Report for NM_004656.4(BAP1):c.1732G>T (p.Gly578Cys)]
NM_004656.4(BAP1):c.1732G>T (p.Gly578Cys)
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
-
Homo sapiens
Homo sapiensMG447 profile of lumbar spinal cord homogenate from healthy controls and ALSBioProject
-
Variovorax paradoxus strain:IPSP_MA_2
Variovorax paradoxus strain:IPSP_MA_2Variovorax paradoxus strain:IPSP_MA_2 Genome sequencingBioProject
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Mus musculus expressed sequence AU040829, mRNA (cDNA clone MGC:73418 IMAGE:68252...
Mus musculus expressed sequence AU040829, mRNA (cDNA clone MGC:73418 IMAGE:6825221), complete cdsgi|33604145|gb|BC056366.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024