Variant (rsID / SNP)
rs142955097
rs142955097 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WDR35. Location: chromosome 2, position 20,173,436. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
WDR35Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:20173436
- Cytoband
- 2p24.1
- HGVS
- NM_020779.4(WDR35):c.770T>C (p.Val257Ala)
- Allele change
- Missense_V257A
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|Connective tissue disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.