Variant (rsID / SNP)

rs398124404

rs398124404 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EHMT1. Location: chromosome 9, position 140,672,501. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

EHMT1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 9:140672501
Cytoband: 9q34.3
HGVS: NM_024757.5(EHMT1):c.2186C>T (p.Ser729Leu)
Allele change: Missense_S698L

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.