Variant (rsID / SNP)

rs281797257

rs281797257 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DHCR24. Location: chromosome 1, position 55,331,115. Clinical significance in the table: no interpretation for the single variant.

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Reference-table entries

DHCR24Other

Clinical significance (as recorded): no interpretation for the single variant
Variant type: single nucleotide variant
Chromosome / position: 1:55331115
Cytoband: 1p32.3
HGVS: NM_014762.4(DHCR24):c.881A>C (p.Asn294Thr)
Allele change: Missense_N294T

Associated conditions / phenotypes

Desmosterolosis

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.