Variant (rsID / SNP)

rs199506852

rs199506852 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DHCR7. Location: chromosome 11, position 71,146,468. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DHCR7Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:71146468
Cytoband: 11q13.4
HGVS: NM_001360.3(DHCR7):c.1381C>T (p.Arg461Cys)
Allele change: Missense_R461C

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.