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Variant (rsID / SNP)

rs144657355

CDK4

rs144657355 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDK4. Location: chromosome 12, position 58,143,020. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CDK4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:58143020
Cytoband
12q14.1
HGVS
NM_000075.4(CDK4):c.764G>A (p.Arg255His)
Allele change
Missense_R255H

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Melanoma, cutaneous malignant, susceptibility to, 3|Familial melanoma

Public references

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