Variant (rsID / SNP)
rs140308808
rs140308808 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WDR35. Location: chromosome 2, position 20,178,593. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
WDR35Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:20178593
- Cytoband
- 2p24.1
- HGVS
- NM_020779.4(WDR35):c.355C>T (p.Arg119Cys)
- Allele change
- Missense_R119C
Associated conditions / phenotypes
Cranioectodermal dysplasia 2|Short-rib thoracic dysplasia 7 with or without polydactyly|Short-rib thoracic dysplasia 7 with or without polydactyly|Cranioectodermal dysplasia 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.