Variant (rsID / SNP)

rs786205129

rs786205129 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EHMT1. Location: chromosome 9, position 140,707,463. Clinical significance in the table: Pathogenic.

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Reference-table entries

EHMT1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Microsatellite
Chromosome / position: 9:140707463
Cytoband: 9q34.3
HGVS: NM_024757.5(EHMT1):c.2877_2880del (p.Ser960fs)

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.