NM_000546.6(TP53):c.638G>T (p.Arg213Leu) AND Li-Fraumeni syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 14, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001371092.7
Allele description [Variation Report for NM_000546.6(TP53):c.638G>T (p.Arg213Leu)]
NM_000546.6(TP53):c.638G>T (p.Arg213Leu)
Condition(s)
-
RecName: Full=High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phos...
RecName: Full=High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8Agi|23503044|sp|O60658.2|PDE8A_HUMANProtein
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Last Updated: Jul 15, 2024