Variant (rsID / SNP)
rs886039773
rs886039773 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SON. Location: chromosome 21, position 34,927,290. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
SONPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Deletion
- Chromosome / position
- 21:34927290
- Cytoband
- 21q22.11
- HGVS
- NM_138927.4(SON):c.5753_5756del (p.Val1918fs)
Associated conditions / phenotypes
ZTTK syndrome|Global developmental delay|Failure to thrive|Inborn genetic diseases|Neurodevelopmental abnormality|Hereditary spastic paraplegia 17|See cases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.