Variant (rsID / SNP)

rs143431217

rs143431217 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHD2. Location: chromosome 15, position 93,558,107. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CHD2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 15:93558107
Cytoband: 15q26.1
HGVS: NM_001271.4(CHD2):c.4874A>G (p.Asn1625Ser)
Allele change: Missense_N1625S

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.