NM_000546.6(TP53):c.555C>T (p.Ser185=) AND Li-Fraumeni syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000633409.18
Allele description [Variation Report for NM_000546.6(TP53):c.555C>T (p.Ser185=)]
NM_000546.6(TP53):c.555C>T (p.Ser185=)
Condition(s)
-
Receptors, Androgen
Receptors, AndrogenProteins, generally found in the CYTOPLASM, that specifically bind ANDROGENS and mediate their cellular actions. The complex of the androgen and receptor migrates to the CELL ...<br/>Year introduced: 1986(1977)MeSH
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Receptors, Calcitriol
Receptors, CalcitriolProteins, usually found in the cytoplasm, that specifically bind calcitriol, migrate to the nucleus, and regulate transcription of specific segments of DNA with the participat...<br/>Year introduced: 1994MeSH
-
Exportin 1 Protein
Exportin 1 ProteinA karyopherin that functions in nuclear export of proteins and several classes of RNAs.<br/>Year introduced: 2024: use KARYOPHERINS 2021-2023MeSH
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Last Updated: Oct 13, 2024