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Gene | CDKN2A |
Variant | W15fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CDKN2A W15fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 15 of 156, likely resulting in a premature truncation of the functional protein (UniProt.org). W15fs has not been characterized, however, due to the effects of other truncation mutations downstream of W15 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A inact mut CDKN2A W15fs |
Transcript | NM_000077.5 |
gDNA | chr9:g.(21974785_21974786) |
cDNA | c.(43_42) |
Protein | p.W15fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |