Variant (rsID / SNP)

rs2229007

rs2229007 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNC1. Location: chromosome 11, position 17,793,385. Clinical significance in the table: Benign.

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Reference-table entries

KCNC1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:17793385
Cytoband: 11p15.1
HGVS: NM_001112741.2(KCNC1):c.744C>T (p.Ile248=)
Allele change: Synonymous_I248I

Associated conditions / phenotypes

Progressive myoclonic epilepsy type 7|Seizure

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.