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Variant (rsID / SNP)

rs74553953

CEP152

rs74553953 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP152. Location: chromosome 15, position 49,048,132. 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
15:49048132
Cytoband
15q21.1
HGVS
NM_001194998.2(CEP152):c.3313C>G (p.Leu1105Val)
Allele change
Missense_L1105V

Associated conditions / phenotypes

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.