Variant (rsID / SNP)

rs864309547

rs864309547 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHD2. Location: chromosome 15, position 93,563,244. 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: 15:93563244
Cytoband: 15q26.1
HGVS: NM_001271.4(CHD2):c.4909C>T (p.Arg1637Ter)
Allele change: Nonsense_R1637X

Associated conditions / phenotypes

Developmental and epileptic encephalopathy 94|Inborn genetic diseases

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.