Variant (rsID / SNP)

rs7671281

rs7671281 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ENAM. Location: chromosome 4, position 71,509,086. Clinical significance in the table: Benign.

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Reference-table entries

ENAMBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 4:71509086
Cytoband: 4q13.3
HGVS: NM_031889.3(ENAM):c.1943T>C (p.Ile648Thr)
Allele change: Missense_I648T

Associated conditions / phenotypes

Amelogenesis imperfecta

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.