Variant (rsID / SNP)
rs79436363
rs79436363 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WDR19. Location: chromosome 4, position 39,274,649. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
WDR19Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:39274649
- Cytoband
- 4p14
- HGVS
- NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln)
- Allele change
- Missense_R1018Q
Associated conditions / phenotypes
Senior-Loken syndrome 8|Asphyxiating thoracic dystrophy 5|Senior-Loken syndrome 8|Cranioectodermal dysplasia|Nephronophthisis 13|Senior-Loken syndrome 8|Leber congenital amaurosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.