Variant (rsID / SNP)

rs147595936

rs147595936 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP152. Location: chromosome 15, position 49,088,213. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CEP152Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 15:49088213
Cytoband: 15q21.1
HGVS: NM_001194998.2(CEP152):c.685A>C (p.Asn229His)
Allele change: Missense_N229H

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.