Variant (rsID / SNP)

rs387906490

rs387906490 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AMELX. Location: chromosome X, position 11,317,019. 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:11317019
Cytoband: Xp22.2
HGVS: NM_001142.2(AMELX):c.499del (p.Leu167fs)

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.