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Variant (rsID / SNP)

rs148337159

CDT1

rs148337159 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDT1. Location: chromosome 16, position 88,872,203. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CDT1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:88872203
Cytoband
16q24.3
HGVS
NM_030928.4(CDT1):c.758G>A (p.Arg253His)
Allele change
Missense_R253H

Public references

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