Variant (rsID / SNP)
rs3744998
rs3744998 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPG5. Location: chromosome 18, position 43,497,710. Clinical significance in the table: Benign.
Reference-table entries
EPG5Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:43497710
- Cytoband
- 18q21.1
- HGVS
- NM_020964.3(EPG5):c.3173T>C (p.Val1058Ala)
- Allele change
- Missense_V1058A
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.