NM_000546.6(TP53):c.772G>A (p.Glu258Lys) AND Li-Fraumeni syndrome 1
- Germline classification:
- Likely pathogenic (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:
- RCV000013141.28
Allele description [Variation Report for NM_000546.6(TP53):c.772G>A (p.Glu258Lys)]
NM_000546.6(TP53):c.772G>A (p.Glu258Lys)
Condition(s)
-
xylulokinase [Escherichia coli str. K-12 substr. MG1655]
xylulokinase [Escherichia coli str. K-12 substr. MG1655]gi|1789987|gb|AAC76588.1||gnl|b3564 18021Protein
-
Invertebrate sample from Phymatotrichopsis omnivora
Invertebrate sample from Phymatotrichopsis omnivorabiosample
-
SAMN15390342 (1)
SRA
-
PREDICTED: Heterocephalus glaber glycosyltransferase 8 domain containing 2 (Glt8...
PREDICTED: Heterocephalus glaber glycosyltransferase 8 domain containing 2 (Glt8d2), transcript variant X7, mRNAgi|1196723853|ref|XM_004844830.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024