Gene entry
SHH
sonic hedgehog signaling molecule
- Chromosome
- 7
- Cytoband
- 7q36.3
- Variants (rsID)
- 8
SHH is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 7 (region 7q36.3). Its official name is “sonic hedgehog signaling molecule”. The reference table lists 8 variants (rsID) for this gene.
Clinically classified variants
5 reference-table entries with clinical significance.
- rs104894047Benignsingle nucleotide variantHoloprosencephaly 3|Schizencephaly
- rs9333594Benignsingle nucleotide variantHoloprosencephaly 3
- rs104894043Conflicting interpretationssingle nucleotide variantHoloprosencephaly 3|Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
- rs104894053Pathogenicsingle nucleotide variantHoloprosencephaly 3|Solitary median maxillary central incisor syndrome
- rs267607047Pathogenicsingle nucleotide variantHoloprosencephaly 3
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.