Variant (rsID / SNP)

rs78690150

rs78690150 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPG5. Location: chromosome 18, position 43,493,733. Clinical significance in the table: Uncertain significance.

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Reference-table entries

EPG5Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 18:43493733
Cytoband: 18q21.1
HGVS: NM_020964.3(EPG5):c.3754C>T (p.Arg1252Trp)
Allele change: Missense_R1252W

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.