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Gene | PALB2 |
Variant | T1099M |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | PALB2 T1099M lies within WD repeat 5 of the Palb2 protein (UniProt.org). T1099M results in homology-directed DNA repair activity similar to wild-type Palb2 in cultured cells (PMID: 35853885), and therefore, is predicted to have no effect on Palb2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 T1099M |
Transcript | NM_024675.4 |
gDNA | chr16:g.23607918G>A |
cDNA | c.3296C>T |
Protein | p.T1099M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_024675.4 | chr16:g.23607918G>A | c.3296C>T | p.T1099M | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23607918G>A | c.3296C>T | p.T1099M | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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