Variant (rsID / SNP)

rs74012142

rs74012142 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP152. Location: chromosome 15, position 49,048,167. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CEP152Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 15:49048167
Cytoband: 15q21.1
HGVS: NM_001194998.2(CEP152):c.3278G>A (p.Cys1093Tyr)
Allele change: Missense_C1093Y

Associated conditions / phenotypes

Microcephaly 9, primary, autosomal recessive|Seckel syndrome 5

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.