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Variant (rsID / SNP)

rs147702169

DLX3

rs147702169 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DLX3. Location: chromosome 17, position 48,072,281. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DLX3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:48072281
Cytoband
17q21.33
HGVS
NM_005220.3(DLX3):c.82G>T (p.Asp28Tyr)
Allele change
Missense_D28Y

Associated conditions / phenotypes

Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism

Public references

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