Variant (rsID / SNP)

rs111250264

rs111250264 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHD8. Location: chromosome 14, position 21,899,462. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CHD8Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 14:21899462
Cytoband: 14q11.2
HGVS: NM_001170629.2(CHD8):c.341C>T (p.Thr114Met)
Allele change: Missense_T114M

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.