Variant (rsID / SNP)
rs138529452
rs138529452 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WDR19. Location: chromosome 4, position 39,233,530. Clinical significance in the table: Benign.
Reference-table entries
WDR19Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:39233530
- Cytoband
- 4p14
- HGVS
- NM_025132.4(WDR19):c.2096G>A (p.Arg699Gln)
- Allele change
- Missense_R539Q
Associated conditions / phenotypes
Senior-Loken syndrome 8|Asphyxiating thoracic dystrophy 5|Asphyxiating thoracic dystrophy 5|Cranioectodermal dysplasia 4|Senior-Loken syndrome 8|Nephronophthisis 13
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.