Variant (rsID / SNP)

rs864309716

rs864309716 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KDM1A. Location: chromosome 1, position 23,403,725. Clinical significance in the table: Pathogenic.

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Reference-table entries

KDM1APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:23403725
Cytoband: 1p36.12
HGVS: NM_001009999.3(KDM1A):c.1739A>G (p.Asp580Gly)
Allele change: Missense_D556G

Associated conditions / phenotypes

Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome

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.