Variant (rsID / SNP)

rs144493712

rs144493712 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WDR35. Location: chromosome 2, position 20,137,622. 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: 2:20137622
Cytoband: 2p24.1
HGVS: NM_020779.4(WDR35):c.2149A>G (p.Ile717Val)
Allele change: Missense_I728V

Associated conditions / phenotypes

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