BRCA1 - Gene browser

BRCA1

BRCA1 DNA repair associated

HCNC Approved Symbol: BRCA1 (HGNC:1100)
Genomic Coordinates: 17:43,044,295 - 43,170,327 (17q21.31)
Synonyms: RNF53, BRCC1, PPP1R53, FANCS
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

44Patients

In total, 44 patients were diagnosed with a variant in the BRCA1 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

044
Patient count

Breast carcinoma: 10 (22.7%)
Patient Count: 10 (22.7%)
% of total patients presenting each phenotype is shown in parentheses.
10 (22.7%)
Short stature: 4 (9.1%)
Patient Count: 4 (9.1%)
% of total patients presenting each phenotype is shown in parentheses.
4 (9.1%)
Breast cancer: 4 (9.1%)
Patient Count: 4 (9.1%)
% of total patients presenting each phenotype is shown in parentheses.
4 (9.1%)
Genetic anticipation: 3 (6.8%)
Patient Count: 3 (6.8%)
% of total patients presenting each phenotype is shown in parentheses.
3 (6.8%)
Cancer: 3 (6.8%)
Patient Count: 3 (6.8%)
% of total patients presenting each phenotype is shown in parentheses.
3 (6.8%)