Gene entry
SMG9
SMG9 nonsense mediated mRNA decay factor
- Chromosome
- 19
- Cytoband
- 19q13.31
- Variants (rsID)
- 4
SMG9 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 19 (region 19q13.31). Its official name is “SMG9 nonsense mediated mRNA decay factor”. The reference table lists 4 variants (rsID) for this gene.
Clinically classified variants
2 reference-table entries with clinical significance.
- rs869312741Likely pathogenicDeletionAbnormal facial shape|Abnormality of cardiovascular system morphology|Global developmental delay|Brainstem dysplasia|Heart and brain malformation syndrome
- rs869312742Likely pathogenicsingle nucleotide variantBrainstem dysplasia|Global developmental delay|Abnormal facial shape|Abnormality of cardiovascular system morphology|Heart and brain malformation syndrome
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.