Variant (rsID / SNP)

rs74909468

rs74909468 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DHCR7. Location: chromosome 11, position 71,152,329. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

DHCR7Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:71152329
Cytoband: 11q13.4
HGVS: NM_001360.3(DHCR7):c.570C>T (p.Ala190=)
Allele change: Synonymous_A190A

Associated conditions / phenotypes

Smith-Lemli-Opitz syndrome|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.