Variant (rsID / SNP)

rs143669310

rs143669310 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EHMT1. Location: chromosome 9, position 140,707,560. Clinical significance in the table: Benign.

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Reference-table entries

EHMT1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:140707560
Cytoband: 9q34.3
HGVS: NM_024757.5(EHMT1):c.2970G>T (p.Gln990His)
Allele change: Missense_Q983H

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.