Gene entry
UNC80
unc-80 subunit of NALCN channel complex
- Chromosome
- 2
- Cytoband
- 2q34
- Variants (rsID)
- 40
UNC80 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q34). Its official name is “unc-80 subunit of NALCN channel complex”. The reference table lists 40 variants (rsID) for this gene.
Clinically classified variants
6 reference-table entries with clinical significance.
- rs61271372Benignsingle nucleotide variant
- rs869025316Conflicting interpretationssingle nucleotide variantHypotonia, infantile, with psychomotor retardation and characteristic facies 2
- rs869025317Likely pathogenicsingle nucleotide variantHypotonia, infantile, with psychomotor retardation and characteristic facies 2
- rs869025318Likely pathogenicDeletionHypotonia, infantile, with psychomotor retardation and characteristic facies 2
- rs869025319Likely pathogenicsingle nucleotide variantHypotonia, infantile, with psychomotor retardation and characteristic facies 2
- rs2075117Not classifiedsynonymous_variant
Other listed variants
- rs1319589
- rs2215669
- rs6727370
- rs6733509
- rs6742553
- rs10178327
- rs10202111
- rs10804178
- rs10932310
- rs16843977
- rs17748818
- rs35822936
- rs73003387
- rs73005317
- rs73078990
- rs74432329
- rs74934974
- rs75245711
- rs75429160
- rs75931221
- rs76006147
- rs76691064
- rs77204504
- rs78350583
- rs78568565
- rs78703781
- rs78912192
- rs78943586
- rs79819256
- rs113573100
- rs114753429
- rs115512673
- rs143696692
- rs202057181
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.