Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs11555217

DHCR7

rs11555217 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DHCR7. Location: chromosome 11, position 71,152,447. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

DHCR7Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:71152447
Cytoband
11q13.4
HGVS
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)
Allele change
Missense_W151S

Associated conditions / phenotypes

Smith-Lemli-Opitz syndrome|2-3 toe syndactyly|Elevated 7-dehydrocholesterol|Primary microcephaly|Small for gestational age

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.