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Variant (rsID / SNP)

rs201270451

DHCR7

rs201270451 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DHCR7. Location: chromosome 11, position 71,146,465. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DHCR7Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:71146465
Cytoband
11q13.4
HGVS
NM_001360.3(DHCR7):c.1384T>C (p.Tyr462His)
Allele change
Missense_Y462H

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.