Variant (rsID / SNP)

rs267607175

rs267607175 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WDR35. Location: chromosome 2, position 20,133,230. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

WDR35Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:20133230
Cytoband: 2p24.1
HGVS: NM_020779.4(WDR35):c.2590G>A (p.Ala864Thr)
Allele change: Missense_A875T

Associated conditions / phenotypes

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.