NM_000546.6(TP53):c.1023C>A (p.Phe341Leu) AND Li-Fraumeni syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004016228.2
Allele description [Variation Report for NM_000546.6(TP53):c.1023C>A (p.Phe341Leu)]
NM_000546.6(TP53):c.1023C>A (p.Phe341Leu)
Condition(s)
-
cytidine deaminase [Halorubrum sp. AD140]
cytidine deaminase [Halorubrum sp. AD140]gi|2638585738|ref|WP_322533182.1|Protein
-
phosphatidate phosphatase LPIN3 isoform X2 [Ovis aries]
phosphatidate phosphatase LPIN3 isoform X2 [Ovis aries]gi|2607013898|ref|XP_060253020.1|Protein
-
Paralabidochromis beadlei LWS gene, intron 1, allele 1, partial sequence, specim...
Paralabidochromis beadlei LWS gene, intron 1, allele 1, partial sequence, specimen_voucher:specimen No. HT-593gi|24138346|dbj|AB090745.1|Nucleotide
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RecName: Full=Enoyl-CoA hydratase domain-containing protein 3, mitochondrial; Fl...
RecName: Full=Enoyl-CoA hydratase domain-containing protein 3, mitochondrial; Flags: Precursorgi|81881554|sp|Q9D7J9.1|ECHD3_MOUSEProtein
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See more...Assertion and evidence details
Last Updated: May 7, 2024