Variant (rsID / SNP)
rs199952377
rs199952377 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WDR35. Location: chromosome 2, position 20,141,557. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
WDR35Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:20141557
- Cytoband
- 2p24.1
- HGVS
- NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter)
- Allele change
- Nonsense_L641X
Associated conditions / phenotypes
Cranioectodermal dysplasia 2|WDR35-Related Disorders|Jeune thoracic dystrophy|Cranioectodermal dysplasia 2|Short-rib thoracic dysplasia 7 with or without polydactyly|Cranioectodermal dysplasia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.