Variant (rsID / SNP)

rs72918350

rs72918350 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPG5. Location: chromosome 18, position 43,496,508. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

EPG5Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 18:43496508
Cytoband: 18q21.1
HGVS: NM_020964.3(EPG5):c.3279C>T (p.Ser1093=)
Allele change: Synonymous_S1093S

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.