Variant (rsID / SNP)

rs140320103

rs140320103 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP57. Location: chromosome 11, position 95,561,013. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CEP57Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:95561013
Cytoband: 11q21
HGVS: NM_014679.5(CEP57):c.949C>T (p.His317Tyr)
Allele change: Missense_H290Y

Associated conditions / phenotypes

Mosaic variegated aneuploidy syndrome 2

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.