Variant (rsID / SNP)
rs1044535
rs1044535 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DHCR7. Location: chromosome 11, position 71,145,778. Clinical significance in the table: Benign.
Reference-table entries
DHCR7Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:71145778
- Cytoband
- 11q13.4
- HGVS
- NM_001360.3(DHCR7):c.*643C>T
- Allele change
- Silent
Associated conditions / phenotypes
Smith-Lemli-Opitz syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.