Variant (rsID / SNP)

rs398123000

rs398123000 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHD2. Location: chromosome 15, position 93,492,200. Clinical significance in the table: Pathogenic.

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Reference-table entries

CHD2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:93492200
Cytoband: 15q26.1
HGVS: NM_001271.4(CHD2):c.1396C>T (p.Arg466Ter)
Allele change: Nonsense_R466X

Associated conditions / phenotypes

Developmental and epileptic encephalopathy 94

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.