Variant (rsID / SNP)

rs718265

rs718265 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DHCR24. Location: chromosome 1, position 55,319,902. Clinical significance in the table: Benign.

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Reference-table entries

DHCR24Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:55319902
Cytoband: 1p32.3
HGVS: NM_014762.4(DHCR24):c.1026T>C (p.Ile342=)
Allele change: Synonymous_I342I

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.