Variant (rsID / SNP)
rs3744996
rs3744996 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPG5. Location: chromosome 18, position 43,490,602. Clinical significance in the table: Benign.
Reference-table entries
EPG5Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:43490602
- Cytoband
- 18q21.1
- HGVS
- NM_020964.3(EPG5):c.4089C>T (p.His1363=)
- Allele change
- Synonymous_H1363H
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.