Variant (rsID / SNP)

rs200042577

rs200042577 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WDR35. Location: chromosome 2, position 20,130,154. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

WDR35Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:20130154
Cytoband: 2p24.1
HGVS: NM_020779.4(WDR35):c.3121+3G>A
Allele change: Silent

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

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.