Variant (rsID / SNP)

rs4135012

rs4135012 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDC6. Location: chromosome 17, position 38,450,248. Clinical significance in the table: Benign.

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Reference-table entries

CDC6Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:38450248
Cytoband: 17q21.2
HGVS: NM_001254.4(CDC6):c.883G>A (p.Asp295Asn)
Allele change: Missense_D295N

Associated conditions / phenotypes

Meier-Gorlin syndrome 5

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.