Variant (rsID / SNP)
rs61978576
rs61978576 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPG5. Location: chromosome 18, position 43,519,602. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
EPG5Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:43519602
- Cytoband
- 18q21.1
- HGVS
- NM_020964.3(EPG5):c.2063T>C (p.Phe688Ser)
- Allele change
- Missense_F688S
Associated conditions / phenotypes
Vici syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.