Variant (rsID / SNP)
rs121434616
rs121434616 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CUL4B. Clinical significance in the table: Pathogenic.
Reference-table entries
CUL4BPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Cytoband
- Xq24
- HGVS
- NM_001079872.2(CUL4B):c.1108C>T (p.Arg370Ter)
- Allele change
- Nonsense_R375X
Associated conditions / phenotypes
X-linked intellectual disability Cabezas type|Intellectual disability|Global developmental delay|Abnormal facial shape|Seizure|Short stature
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.