Variant (rsID / SNP)

rs180913079

rs180913079 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPG5. Location: chromosome 18, position 43,534,568. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

EPG5Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 18:43534568
Cytoband: 18q21.1
HGVS: NM_020964.3(EPG5):c.800C>T (p.Ser267Leu)
Allele change: Missense_S267L

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.