Variant (rsID / SNP)

rs387906489

rs387906489 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AMELX. Location: chromosome X, position 11,316,953. Clinical significance in the table: Pathogenic.

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Reference-table entries

AMELXPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: X:11316953
Cytoband: Xp22.2
HGVS: NM_001142.2(AMELX):c.431del (p.Pro144fs)

Associated conditions / phenotypes

Amelogenesis imperfecta type 1E

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.