Variant (rsID / SNP)
rs71640288
rs71640288 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHD7. Location: chromosome 8, position 61,757,805. Clinical significance in the table: Benign.
Reference-table entries
CHD7Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:61757805
- Cytoband
- 8q12.2
- HGVS
- NM_017780.4(CHD7):c.5051-4C>T
- Allele change
- Silent
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.