Variant (rsID / SNP)
rs28939078
rs28939078 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABHD5. Location: chromosome 3, position 43,759,167. Clinical significance in the table: Pathogenic.
Reference-table entries
ABHD5Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:43759167
- Cytoband
- 3p21.33
- HGVS
- NM_016006.6(ABHD5):c.778G>A (p.Glu260Lys)
- Allele change
- Missense_E260K
Associated conditions / phenotypes
Triglyceride storage disease with ichthyosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.