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Variant (rsID / SNP)

rs565686460

CHD2

rs565686460 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHD2. Location: chromosome 15, position 93,552,443. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CHD2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
15:93552443
Cytoband
15q26.1
HGVS
NM_001271.4(CHD2):c.4482C>T (p.Asn1494=)
Allele change
Synonymous_N1494N

Associated conditions / phenotypes

Developmental and epileptic encephalopathy 94

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.