Gene Variant Detail

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Gene TP53
Variant C124fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TP53 C124fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 124 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). C124fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of C124 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon4 TP53 C124fs

TP53 mutant TP53 inact mut TP53 C124fs

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Transcript NM_000546.6
gDNA chr17:g.(7675999_7676000)
cDNA c.(370_369)
Protein p.C124fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126112.2 chr17:g.(7675999_7676000) c.(370_369) p.C124fs RefSeq GRCh38/hg38
NM_001126113 chr17:g.(7675999_7676000) c.(370_369) p.C124fs RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.(7675999_7676000) c.(370_369) p.C124fs RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.(7675999_7676000) c.(370_369) p.C124fs RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.(7675999_7676000) c.(370_369) p.C124fs RefSeq GRCh38/hg38
NM_000546 chr17:g.(7675999_7676000) c.(370_369) p.C124fs RefSeq GRCh38/hg38
NM_001126114 chr17:g.(7675999_7676000) c.(370_369) p.C124fs RefSeq GRCh38/hg38
NM_000546.5 chr17:g.(7675999_7676000) c.(370_369) p.C124fs RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.(7675999_7676000) c.(370_369) p.C124fs RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.(7675999_7676000) c.(370_369) p.C124fs RefSeq GRCh38/hg38
NM_000546.6 chr17:g.(7675999_7676000) c.(370_369) p.C124fs RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.(7675999_7676000) c.(370_369) p.C124fs RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.(7675999_7676000) c.(370_369) p.C124fs RefSeq GRCh38/hg38
NM_001126112 chr17:g.(7675999_7676000) c.(370_369) p.C124fs RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.(7675999_7676000) c.(370_369) p.C124fs RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.(7675999_7676000) c.(370_369) p.C124fs RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.(7675999_7676000) c.(370_369) p.C124fs RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References