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Variant (rsID / SNP)

rs267606717

CEP152

rs267606717 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP152. Location: chromosome 15, position 49,085,556. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CEP152Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
15:49085556
Cytoband
15q21.1
HGVS
NM_001194998.2(CEP152):c.794A>C (p.Gln265Pro)
Allele change
Missense_Q265P

Associated conditions / phenotypes

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

Public references

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