Variant (rsID / SNP)
rs869312833
rs869312833 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POGZ. Location: chromosome 1, position 151,378,510. Clinical significance in the table: Pathogenic.
Reference-table entries
POGZPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:151378510
- Cytoband
- 1q21.3
- HGVS
- NM_015100.4(POGZ):c.3001C>T (p.Arg1001Ter)
- Allele change
- Nonsense_R906X
Associated conditions / phenotypes
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.