Gene: BRCA1
Coding Change (c.): c.514del
Protein Change (p.): p.Gln172fs
ClinVar Name: NM_007294.4(BRCA1):c.514del (p.Gln172fs)
ClinVar Number: 55421
Variant Forum: https://messageboard.facingourrisk.org/t/brca1-c-514del-p-gin172asnfs-62/5888