Ataxia and dyslipidemia, LIPC-related
Phenotype Details
- Phene ID
- 6704
- Name
- Ataxia and dyslipidemia, LIPC-related
- Phene Name
- N/A
- OMIA ID
- 3023
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2026
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1842 | Ataxia | 398299064 | Unknown | 10 | NC_037337.1:g.51715800G>C | NM_001035410.1:c.924C>G | NP_001030487.1:p.(F308L) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Brown Swiss (Cattle) | 59 | 9913 | http://purl.obolibrary.org/obo/VBO_0000166 |
Molecular Genetics
Weber et al. (2026) investigated an inherited neuromuscular disorder in Brown Swiss cattle. Use of whole genome sequencing resulted in the identification of a "rare homozygous missense variant in LIPC (chr10:51715800G>C; NM_001035410.1:c.924C>G; p.Phe308Leu; omia.variant:1842) ... and in-silico predictions classified this variant as deleterious. Population-level genotyping of over 20.000 BS cattle revealed a variant allele frequency of 17% with significant deviation from the Hardy–Weinberg equilibrium (p-value=1.14 × 10⁻20), suggesting possible lethality in homozygotes. "