BRCA1 c.4327C>T 17675

Gene

BRCA1

Coding Change (c.)

c.4327C>T

Protein Change (p.)

p.Arg1443Ter

ClinVar Name

NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)

ClinVar Number

17675

Variant Forum

https://messageboard.facingourrisk.org/t/brca1-r1443x/1936

Notes

This is thought to be a French Canadian variant. It may be Angelina Jolie's variant. There has been a published haplotype analysis of this variant https://pubmed.ncbi.nlm.nih.gov/15883839/

Other Names

p.R1443X:CGA>TGA, 4446C>T