Variant (rsID / SNP)

rs879255531

rs879255531 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EHMT1. Location: chromosome 9, position 140,622,831. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

EHMT1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:140622831
Cytoband: 9q34.3
HGVS: NM_024757.5(EHMT1):c.673C>T (p.Arg225Ter)
Allele change: Nonsense_R225X

Associated conditions / phenotypes

Kleefstra syndrome 1

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.