Variant (rsID / SNP)

rs119475041

rs119475041 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DHCR24. Location: chromosome 1, position 55,340,807. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

DHCR24Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:55340807
Cytoband: 1p32.3
HGVS: NM_014762.4(DHCR24):c.571G>A (p.Glu191Lys)
Allele change: Missense_E191K

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.