NM_000546.6(TP53):c.22C>A (p.Pro8Thr) AND Li-Fraumeni syndrome 1
- Germline classification:
- Uncertain significance (2 submissions)
- 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:
- RCV001257498.4
Allele description [Variation Report for NM_000546.6(TP53):c.22C>A (p.Pro8Thr)]
NM_000546.6(TP53):c.22C>A (p.Pro8Thr)
Condition(s)
-
Gene Links for GEO Profiles (Select 132270911) (1)
Gene
-
CD163L1 CD163 molecule like 1 [Homo sapiens]
CD163L1 CD163 molecule like 1 [Homo sapiens]Gene ID:283316Gene
-
B4GALT1 beta-1,4-galactosyltransferase 1 [Homo sapiens]
B4GALT1 beta-1,4-galactosyltransferase 1 [Homo sapiens]Gene ID:2683Gene
-
Gene Links for GEO Profiles (Select 132487432) (1)
Gene
-
Homo sapiens isolate CHM13 chromosome 12, alternate assembly T2T-CHM13v2.0
Homo sapiens isolate CHM13 chromosome 12, alternate assembly T2T-CHM13v2.0gi|2194973269|gnl|ASM:GCF_009914825 ef|NC_060936.1||gpp|GPC_000012751.1||gnl|NCBI_GENOMES|119572Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024