Variant (rsID / SNP)

rs143129444

rs143129444 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ENAM. Location: chromosome 4, position 71,503,556. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ENAMUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 4:71503556
Cytoband: 4q13.3
HGVS: NM_031889.3(ENAM):c.584G>T (p.Gly195Val)
Allele change: Missense_G195V

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.