Variant (rsID / SNP)

rs2272457

rs2272457 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHD2. Location: chromosome 15, position 93,536,197. Clinical significance in the table: Benign.

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Reference-table entries

CHD2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 15:93536197
Cytoband: 15q26.1
HGVS: NM_001271.4(CHD2):c.3564C>T (p.Tyr1188=)
Allele change: Synonymous_Y1188Y

Associated conditions / phenotypes

History of neurodevelopmental disorder|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.