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Variant (rsID / SNP)

rs182018947

CEP152

rs182018947 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP152. Location: chromosome 15, position 49,059,645. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CEP152Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
15:49059645
Cytoband
15q21.1
HGVS
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)
Allele change
Nonsense_Y678X

Associated conditions / phenotypes

Microcephaly 9, primary, autosomal recessive|CEP152-Related Disorders|Seckel syndrome 5|Seckel syndrome 5|Microcephaly 9, primary, autosomal recessive

Public references

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