Gene entry
SPATA7
spermatogenesis associated 7
- Chromosome
- 14
- Cytoband
- 14q31.3
- Variants (rsID)
- 9
SPATA7 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 14 (region 14q31.3). Its official name is “spermatogenesis associated 7”. The reference table lists 9 variants (rsID) for this gene.
Clinically classified variants
4 reference-table entries with clinical significance.
- rs3179969Benignsingle nucleotide variantRetinitis pigmentosa|Leber congenital amaurosis 3
- rs4904448Benignsingle nucleotide variantRetinitis pigmentosa|Leber congenital amaurosis 3
- rs34682727Conflicting interpretationssingle nucleotide variantRetinitis pigmentosa|Leber congenital amaurosis 3
- rs80044281Pathogenicsingle nucleotide variantLeber congenital amaurosis 3|SPATA7-Related Disorders
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.
