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Variant (rsID / SNP)

rs143711180

CEP57

rs143711180 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP57. Location: chromosome 11, position 95,552,046. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CEP57Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:95552046
Cytoband
11q21
HGVS
NM_014679.5(CEP57):c.677G>A (p.Arg226His)
Allele change
Missense_R199H

Associated conditions / phenotypes

Mosaic variegated aneuploidy syndrome 2

Public references

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