Variant (rsID / SNP)

rs104894297

rs104894297 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SC5D. Location: chromosome 11, position 121,174,221. Clinical significance in the table: Pathogenic.

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Reference-table entries

SC5DPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:121174221
Cytoband: 11q24.1
HGVS: NM_006918.5(SC5D):c.137A>C (p.Tyr46Ser)
Allele change: Missense_Y46S

Associated conditions / phenotypes

Lathosterolosis

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.