The BRCA2 variant 8204G>A is a splicing mutation and results in an in frame deletion of the gene.
Hofmann
W
W
Horn
D
D
Hüttner
C
C
Classen
E
E
Scherneck
S
S
D000328:Adult; D017398:Alternative Splicing / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics*; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D004273:DNA, Neoplasm / Q000737:chemistry / Q000235:genetics; D005091:Exons / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D017354:Point Mutation; D017384:Sequence Deletion
D024682:BRCA2 Protein; D018076:DNA, Complementary; D004273:DNA, Neoplasm