Variant (rsID / SNP)

rs145552478

rs145552478 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDT1. Location: chromosome 16, position 88,871,972. 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: 16:88871972
Cytoband: 16q24.3
HGVS: NM_030928.4(CDT1):c.613G>A (p.Gly205Ser)
Allele change: Missense_G205S

Associated conditions / phenotypes

Meier-Gorlin syndrome 4

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.