Gene entry
HERC1
HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
- Chromosome
- 15
- Cytoband
- 15q22.31
- Variants (rsID)
- 34
HERC1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 15 (region 15q22.31). Its official name is “HECT and RLD domain containing E3 ubiquitin protein ligase family member 1”. The reference table lists 34 variants (rsID) for this gene.
Clinically classified variants
1 reference-table entries with clinical significance.
- rs797045141Likely pathogenicsingle nucleotide variantMegalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability|Macrocephaly, dysmorphic facies, and psychomotor retardation
Other listed variants
- rs2228513
- rs2228515
- rs4411464
- rs7178104
- rs10152515
- rs11630290
- rs11636284
- rs34484871
- rs35494311
- rs35978932
- rs61740450
- rs62014173
- rs62014181
- rs72750970
- rs74904032
- rs75593412
- rs78341289
- rs116967176
- rs117044596
- rs117293288
- rs117359339
- rs117602042
- rs117707716
- rs117960804
- rs118053682
- rs137926425
- rs143194649
- rs143578318
- rs146235462
- rs189155802
- rs200318759
- rs200988839
- rs201819784
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.