NM_000546.6(TP53):c.717C>T (p.Asn239=) AND Li-Fraumeni syndrome 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002289797.2
Allele description [Variation Report for NM_000546.6(TP53):c.717C>T (p.Asn239=)]
NM_000546.6(TP53):c.717C>T (p.Asn239=)
Condition(s)
-
Developmental pluripotency associated 2 [Homo sapiens]
Developmental pluripotency associated 2 [Homo sapiens]gi|17390151|gb|AAH18070.1|Protein
-
600368 (1)
OMIM
-
Cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa [Homo sapiens]
Cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa [Homo sapiens]gi|17389334|gb|AAH17712.1|Protein
-
Esophageal Sphincter, Upper
Esophageal Sphincter, UpperThe structure at the pharyngoesophageal junction consisting chiefly of the cricopharyngeus muscle. It normally occludes the lumen of the ESOPHAGUS, except during SWALLOWING....<br/>Year introduced: 2005MeSH
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024