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Variant (rsID / SNP)

rs144860976

EPG5

rs144860976 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPG5. Location: chromosome 18, position 43,490,652. 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
18:43490652
Cytoband
18q21.1
HGVS
NM_020964.3(EPG5):c.4039A>C (p.Asn1347His)
Allele change
Missense_N1347H

Associated conditions / phenotypes

Inborn genetic diseases|Vici syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.