Variant (rsID / SNP)

rs200830337

rs200830337 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHD2. Location: chromosome 15, position 93,482,923. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CHD2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 15:93482923
Cytoband: 15q26.1
HGVS: NM_001271.4(CHD2):c.667C>G (p.Arg223Gly)
Allele change: Missense_R223C

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.