Variant (rsID / SNP)

rs34123953

rs34123953 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WDR72. Location: chromosome 15, position 53,994,463. Clinical significance in the table: Likely benign.

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Reference-table entries

WDR72Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 15:53994463
Cytoband: 15q21.3
HGVS: NM_182758.4(WDR72):c.1437A>C (p.Gln479His)
Allele change: Missense_Q479H

Associated conditions / phenotypes

Amelogenesis imperfecta hypomaturation type 2A3

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.