Variant (rsID / SNP)

rs480727

rs480727 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDT1. Location: chromosome 16, position 88,872,229. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CDT1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:88872229
Cytoband: 16q24.3
HGVS: NM_030928.4(CDT1):c.784A>G (p.Thr262Ala)
Allele change: Missense_T262A

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.