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Variant (rsID / SNP)

rs146839668

CDK5RAP2

rs146839668 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDK5RAP2. Location: chromosome 9, position 123,342,223. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CDK5RAP2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:123342223
Cytoband
9q33.2
HGVS
NM_018249.6(CDK5RAP2):c.34G>C (p.Val12Leu)
Allele change
Silent

Associated conditions / phenotypes

Microcephaly 3, primary, autosomal recessive

Public references

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