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Gene | BARD1 |
Variant | T716N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BARD1 T716N lies within BRCT domain 2 of the Bard1 protein (UniProt.org). T716N has been identified in sequencing studies (PMID: 33933153), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
BARD1 mutant BARD1 T716N |
Transcript | NM_000465.4 |
gDNA | chr2:g.214728863G>T |
cDNA | c.2147C>A |
Protein | p.T716N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |