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Variant (rsID / SNP)

rs74470618

WDR35

rs74470618 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WDR35. Location: chromosome 2, position 20,137,705. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

WDR35Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:20137705
Cytoband
2p24.1
HGVS
NM_020779.4(WDR35):c.2066G>A (p.Arg689His)
Allele change
Missense_R700H

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.