Gene entry
SH2D1A
SH2 domain containing 1A
- Chromosome
- X
- Cytoband
- Xq25
- Variants (rsID)
- 15
SH2D1A is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xq25). Its official name is “SH2 domain containing 1A”. The reference table lists 15 variants (rsID) for this gene.
Clinically classified variants
6 reference-table entries with clinical significance.
- rs6649207Benignsingle nucleotide variantX-linked lymphoproliferative disease due to SH2D1A deficiency
- rs111033624Pathogenicsingle nucleotide variantX-linked lymphoproliferative disease due to SH2D1A deficiency
- rs111033626Pathogenicsingle nucleotide variantX-linked lymphoproliferative disease due to SH2D1A deficiency
- rs111033627Pathogenicsingle nucleotide variantX-linked lymphoproliferative disease due to SH2D1A deficiency
- rs111033628Pathogenicsingle nucleotide variantX-linked lymphoproliferative disease due to SH2D1A deficiency
- rs111033630Pathogenicsingle nucleotide variantX-linked lymphoproliferative disease due to SH2D1A deficiency
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.