rs72947594

This variant is located in the PBRM1 gene.

▶

ClinVar annotation

Benign★★★☆
3 submitters1 publication

not provided; Gastric cancer; Uterine carcinosarcoma; Sarcoma; Ovarian serous cystadenocarcinoma; Familial pancreatic carcinoma; Cholangiocarcinoma; Acute myeloid leukemia; Lung cancer; Cervical cancer

View on ClinVar →

About PBRM1

This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by nuclear hormone receptors. Mutations at this locus have been associated with primary clear cell renal cell carcinoma. [provided by RefSeq, Feb 2012]

View all PBRM1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…