Variant (rsID / SNP)

rs121909768

rs121909768 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DHCR7. Location: chromosome 11, position 71,146,794. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

DHCR7Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:71146794
Cytoband: 11q13.4
HGVS: NM_001360.3(DHCR7):c.1055G>A (p.Arg352Gln)
Allele change: Missense_R352L

Associated conditions / phenotypes

Smith-Lemli-Opitz syndrome

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.