Gene entry
IMPDH1
inosine monophosphate dehydrogenase 1
- Chromosome
- 7
- Cytoband
- 7q32.1
- Variants (rsID)
- 11
IMPDH1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 7 (region 7q32.1). Its official name is “inosine monophosphate dehydrogenase 1”. The reference table lists 11 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs1803822Benignsingle nucleotide variantRetinitis pigmentosa|Leber congenital amaurosis 11
- rs121912553Conflicting interpretationssingle nucleotide variantLeber congenital amaurosis 11
- rs121912550Pathogenicsingle nucleotide variantRetinitis pigmentosa 10
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.