Variant (rsID / SNP)

rs140995590

rs140995590 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DHCR24. Location: chromosome 1, position 55,352,712. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DHCR24Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:55352712
Cytoband: 1p32.3
HGVS: NM_014762.4(DHCR24):c.81C>T (p.Leu27=)
Allele change: Synonymous_L27L

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.