Variant (rsID / SNP)
rs16995209
rs16995209 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WDR19. Location: chromosome 4, position 39,267,749. Clinical significance in the table: Benign.
Reference-table entries
WDR19Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:39267749
- Cytoband
- 4p14
- HGVS
- NM_025132.4(WDR19):c.3250G>A (p.Gly1084Ser)
- Allele change
- Missense_G924S
Associated conditions / phenotypes
Cranioectodermal dysplasia 4|Asphyxiating thoracic dystrophy 5|Senior-Loken syndrome 8|Asphyxiating thoracic dystrophy 5|Nephronophthisis 13|Connective tissue disorder|Senior-Loken syndrome 8
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.