Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

CERS1

ceramide synthase 1

Chromosome
19
Cytoband
19p13.11
Variants (rsID)
1

CERS1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 19 (region 19p13.11). Its official name is “ceramide synthase 1”. The reference table lists 1 variant (rsID) for this gene.

Clinically classified variants

1 reference-table entries with clinical significance.

  • rs121434422Pathogenicsingle nucleotide variantCongenital heart defects, multiple types, 6|Right atrial isomerism|Progressive myoclonic epilepsy type 8

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.