Variant (rsID / SNP)

rs78339727

rs78339727 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPG5. Location: chromosome 18, position 43,496,539. Clinical significance in the table: Benign.

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Reference-table entries

EPG5Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 18:43496539
Cytoband: 18q21.1
HGVS: NM_020964.3(EPG5):c.3248C>T (p.Ser1083Leu)
Allele change: Missense_S1083L

Associated conditions / phenotypes

Vici syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.