Variant (rsID / SNP)

rs80338862

rs80338862 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DHCR7. Location: chromosome 11, position 71,146,621. 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: 11:71146621
Cytoband: 11q13.4
HGVS: NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser)
Allele change: Missense_G410S

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.