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hepatocellular carcinoma [TP53/ARG249SER]
G to T or C mutation in third nucleotide of codon 249.
Properties
GENETIC-ABNORMALITY: point mutation
LOCUS: human chromosome-17 P13.1
ABERRANT-GENE: p53 gene
SITE: 249
MUTATION-FROM-AMINO-ACID: arginine residue
MUTATION-TO-AMINO-ACID: serine residue
Database Correlations
OMIM 191170
MORBIDMAP 191170
References
MIM# 191170.0006