Variant (rsID / SNP)

rs387906917

rs387906917 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDT1. Location: chromosome 16, position 88,873,798. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

CDT1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:88873798
Cytoband: 16q24.3
HGVS: NM_030928.4(CDT1):c.1385G>A (p.Arg462Gln)
Allele change: Missense_R462Q

Associated conditions / phenotypes

Meier-Gorlin syndrome 4|Meier-Gorlin syndrome

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.