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Variant (rsID / SNP)

rs144085805

EHMT1

rs144085805 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EHMT1. Location: chromosome 9, position 140,695,419. 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
9:140695419
Cytoband
9q34.3
HGVS
NM_024757.5(EHMT1):c.2695A>G (p.Ile899Val)
Allele change
Missense_I892V

Associated conditions / phenotypes

Kleefstra syndrome 1|History of neurodevelopmental disorder

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.