Variant (rsID / SNP)

rs201604061

rs201604061 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHD8. Location: chromosome 14, position 21,862,633. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CHD8Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 14:21862633
Cytoband: 14q11.2
HGVS: NM_001170629.2(CHD8):c.5402G>A (p.Arg1801His)
Allele change: Missense_R1801H

Associated conditions / phenotypes

Autism, susceptibility to, 18

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.