Variant (rsID / SNP)

rs104894212

rs104894212 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DHCR7. Location: chromosome 11, position 71,150,012. Clinical significance in the table: Pathogenic.

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Reference-table entries

DHCR7Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:71150012
Cytoband: 11q13.4
HGVS: NM_001360.3(DHCR7):c.744G>T (p.Trp248Cys)
Allele change: Missense_W248C

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.