Variant (rsID / SNP)

rs200652608

rs200652608 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDT1. Location: chromosome 16, position 88,873,815. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CDT1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:88873815
Cytoband: 16q24.3
HGVS: NM_030928.4(CDT1):c.1402G>A (p.Glu468Lys)
Allele change: Missense_E468K

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.