Gene entry
NSDHL
NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL
- Chromosome
- X
- Cytoband
- Xq28
- Variants (rsID)
- 21
NSDHL is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xq28). Its official name is “NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL”. The reference table lists 21 variants (rsID) for this gene.
Clinically classified variants
10 reference-table entries with clinical significance.
- rs782143078Conflicting interpretationssingle nucleotide variant
- rs104894901Pathogenicsingle nucleotide variantChild syndrome
- rs104894902Pathogenicsingle nucleotide variantChild syndrome
- rs104894903Pathogenicsingle nucleotide variantChild syndrome
- rs104894904Pathogenicsingle nucleotide variantChild syndrome
- rs104894905Pathogenicsingle nucleotide variantChild syndrome
- rs104894909Pathogenicsingle nucleotide variantChild syndrome
- rs141571609Pathogenicsingle nucleotide variantChild syndrome
- rs137853862Not classifiedsingle nucleotide variantChild syndrome
- rs137853863Not classifiedsingle nucleotide variantChild 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.