Variant (rsID / SNP)

rs10467770

rs10467770 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHD8. Location: chromosome 14, position 21,899,631. Clinical significance in the table: Benign.

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Reference-table entries

CHD8Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 14:21899631
Cytoband: 14q11.2
HGVS: NM_001170629.2(CHD8):c.172G>A (p.Val58Met)
Allele change: Missense_V58M

Associated conditions / phenotypes

History of neurodevelopmental disorder

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.