Variant (rsID / SNP)

rs143816093

rs143816093 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WDR72. Location: chromosome 15, position 53,901,728. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

WDR72Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:53901728
Cytoband: 15q21.3
HGVS: NM_182758.4(WDR72):c.2934G>A (p.Trp978Ter)
Allele change: Nonsense_W978X

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.