BABAM1 BRISC and BRCA1 A complex member 1
Gene ID: 29086, updated on 5-Mar-2024Gene type: protein coding
Also known as: NBA1; HSPC142; MERIT40; C19orf62
- See all available tests in GTR for this gene
- Go to complete Gene record for BABAM1
- Go to Variation Viewer for BABAM1 variants
Summary
Involved in several processes, including mitotic G2 DNA damage checkpoint signaling; positive regulation of DNA repair; and protein K63-linked deubiquitination. Located in cytosol and nuclear body. Part of BRCA1-A complex and BRISC complex. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. GeneReviews: Not available | |
| Common variants at 19p13 are associated with susceptibility to ovarian cancer. GeneReviews: Not available | |
| Genome-wide association studies identify four ER negative-specific breast cancer risk loci. GeneReviews: Not available | |
| Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. GeneReviews: Not available | |
| GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. GeneReviews: Not available |
Genomic context
- Location:
- 19p13.11
- Sequence:
- Chromosome: 19; NC_000019.10 (17267443..17279337)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for BABAM1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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