Variant (rsID / SNP)

rs6416452

rs6416452 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WDR72. Location: chromosome 15, position 53,994,493. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

WDR72Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 15:53994493
Cytoband: 15q21.3
HGVS: NM_182758.4(WDR72):c.1407T>C (p.Tyr469=)
Allele change: Synonymous_Y469Y

Associated conditions / phenotypes

Amelogenesis Imperfecta, Recessive|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.