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Variant (rsID / SNP)

rs56395266

WDR35

rs56395266 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WDR35. Location: chromosome 2, position 20,130,259. Clinical significance in the table: Benign.

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Reference-table entries

WDR35Benign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
2:20130259
Cytoband
2p24.1
HGVS
NM_020779.4(WDR35):c.3019C>T (p.Arg1007Cys)
Allele change
Missense_R1018C

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.