Gene entry
SAMHD1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
- Chromosome
- 20
- Cytoband
- 20q11.23
- Variants (rsID)
- 9
SAMHD1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 20 (region 20q11.23). Its official name is “SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1”. The reference table lists 9 variants (rsID) for this gene.
Clinically classified variants
2 reference-table entries with clinical significance.
- rs138603088Conflicting interpretationssingle nucleotide variantChilblain lupus 2|Aicardi-Goutieres syndrome 5|Aicardi Goutieres syndrome
- rs121434516Uncertain significancesingle nucleotide variantAicardi-Goutieres syndrome 5
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.