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Variant (rsID / SNP)

rs2241220

ACACB

rs2241220 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACACB. Location: chromosome 12, position 109,675,029. The table records no clinical significance for this variant.

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Reference-table entries

ACACBNot classified
Variant type
synonymous_variant
Chromosome / position
12:109675029
HGVS
NM_001093.4,c.4506T>C,p.Leu1502Leu
Allele change
Synonymous_L1502L

Associated conditions / phenotypes

Hypercholesterolemia, Familial, 1|Hypercholesterolemia, Familial, 3|Myositis|Hypertriglyceridemia 1|Hypertriglyceridemia, Transient Infantile

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.