Variant (rsID / SNP)
rs886040983
rs886040983 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHD7. Location: chromosome 8, position 61,735,063. Clinical significance in the table: Pathogenic.
Reference-table entries
CHD7Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:61735063
- Cytoband
- 8q12.2
- HGVS
- NM_017780.4(CHD7):c.2959C>T (p.Arg987Ter)
- Allele change
- Nonsense_R987X
Associated conditions / phenotypes
CHARGE association
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.