Variant (rsID / SNP)

rs104894467

rs104894467 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PAX9. Location: chromosome 14, position 37,132,437. Clinical significance in the table: Pathogenic.

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Reference-table entries

PAX9Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:37132437
Cytoband: 14q13.3
HGVS: NM_001372076.1(PAX9):c.340A>T (p.Lys114Ter)
Allele change: Nonsense_K114X

Associated conditions / phenotypes

Tooth agenesis, selective, 3

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.