Variant (rsID / SNP)

rs71508957

rs71508957 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JMJD1C. Location: chromosome 10, position 64,927,837. Clinical significance in the table: Likely benign.

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Reference-table entries

JMJD1CLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:64927837
Cytoband: 10q21.3
HGVS: NM_032776.3(JMJD1C):c.7591G>A (p.Glu2531Lys)
Allele change: Missense_E2349K

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.