Variant (rsID / SNP)

rs587783393

rs587783393 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDK5RAP2. Location: chromosome 9, position 123,298,784. 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: Deletion
Chromosome / position: 9:123298784
Cytoband: 9q33.2
HGVS: NM_018249.6(CDK5RAP2):c.524_528del (p.Gln175fs)

Associated conditions / phenotypes

Microcephaly 3, primary, autosomal recessive

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.