Variant (rsID / SNP)

rs139706626

rs139706626 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDK5RAP2. Location: chromosome 9, position 123,220,809. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CDK5RAP2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:123220809
Cytoband: 9q33.2
HGVS: NM_018249.6(CDK5RAP2):c.2294C>G (p.Pro765Arg)
Allele change: Silent

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.