Variant (rsID / SNP)

rs117647164

rs117647164 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JMJD1C. Location: chromosome 10, position 64,974,017. Clinical significance in the table: Benign.

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Reference-table entries

JMJD1CBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:64974017
Cytoband: 10q21.3
HGVS: NM_032776.3(JMJD1C):c.1910A>G (p.Lys637Arg)
Allele change: Missense_K455R

Associated conditions / phenotypes

Early myoclonic encephalopathy

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.