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Variant (rsID / SNP)

rs80338858

DHCR7

rs80338858 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DHCR7. Location: chromosome 11, position 71,148,915. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

DHCR7Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:71148915
Cytoband
11q13.4
HGVS
NM_001360.3(DHCR7):c.906C>G (p.Phe302Leu)
Allele change
Missense_F302L

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.