Variant (rsID / SNP)

rs183478189

rs183478189 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPG5. Location: chromosome 18, position 43,535,105. Clinical significance in the table: Pathogenic.

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Reference-table entries

EPG5Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 18:43535105
Cytoband: 18q21.1
HGVS: NM_020964.3(EPG5):c.263T>G (p.Leu88Ter)
Allele change: Nonsense_L88X

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.