Variant (rsID / SNP)

rs139543775

rs139543775 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WDR35. Location: chromosome 2, position 20,174,240. Clinical significance in the table: Likely benign.

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Reference-table entries

WDR35Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:20174240
Cytoband: 2p24.1
HGVS: NM_020779.4(WDR35):c.725A>G (p.Glu242Gly)
Allele change: Missense_E242G

Associated conditions / phenotypes

Cranioectodermal dysplasia 2|Short-rib thoracic dysplasia 7 with or without polydactyly

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.