Variant (rsID / SNP)

rs138526640

rs138526640 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDK5RAP2. Location: chromosome 9, position 123,202,134. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CDK5RAP2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 9:123202134
Cytoband: 9q33.2
HGVS: NM_018249.6(CDK5RAP2):c.3265T>C (p.Ser1089Pro)
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.