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Variant (rsID / SNP)

rs147697562

CEP135

rs147697562 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP135. Location: chromosome 4, position 56,819,340. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CEP135Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:56819340
Cytoband
4q12
HGVS
NM_025009.5(CEP135):c.203T>C (p.Leu68Ser)
Allele change
Missense_L68S

Public references

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