Variant (rsID / SNP)

rs148641800

rs148641800 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPG5. Location: chromosome 18, position 43,492,273. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

EPG5Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 18:43492273
Cytoband: 18q21.1
HGVS: NM_020964.3(EPG5):c.3965G>A (p.Arg1322His)
Allele change: Missense_R1322H

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.