Variant (rsID / SNP)
rs16926453
rs16926453 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHD7. Location: chromosome 8, position 61,654,207. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CHD7Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:61654207
- Cytoband
- 8q12.2
- HGVS
- NM_017780.4(CHD7):c.216T>C (p.Tyr72=)
- Allele change
- Synonymous_Y72Y
Associated conditions / phenotypes
CHARGE association|Hypogonadotropic hypogonadism 5 with or without anosmia|History of neurodevelopmental disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.