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Variant (rsID / SNP)

rs17730281

WDR72

rs17730281 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WDR72. Location: chromosome 15, position 53,907,948. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

WDR72Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
15:53907948
Cytoband
15q21.3
HGVS
NM_182758.4(WDR72):c.2455C>T (p.Leu819Phe)
Allele change
Missense_L819F

Associated conditions / phenotypes

Amelogenesis Imperfecta, Recessive|Amelogenesis imperfecta hypomaturation type 2A3

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.