Variant (rsID / SNP)

rs1057516095

rs1057516095 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ2. Location: chromosome 20, position 62,071,051. Clinical significance in the table: Pathogenic.

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Reference-table entries

KCNQ2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 20:62071051
Cytoband: 20q13.33
HGVS: NM_172107.4(KCNQ2):c.827C>T (p.Thr276Ile)
Allele change: Missense_T276I

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 7

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.