Gene entry
RBM8A
RNA binding motif protein 8A
- Chromosome
- 1
- Cytoband
- 1q21.1
- Variants (rsID)
- 2
RBM8A is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1q21.1). Its official name is “RNA binding motif protein 8A”. The reference table lists 2 variants (rsID) for this gene.
Clinically classified variants
2 reference-table entries with clinical significance.
- rs139428292Pathogenicsingle nucleotide variantRadial aplasia-thrombocytopenia syndrome
- rs201779890Pathogenicsingle nucleotide variantRadial aplasia-thrombocytopenia syndrome|Clinodactyly of the 5th finger|Abnormality of brain morphology|Global developmental delay
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.