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Variant (rsID / SNP)

rs79720897

VLDLR

rs79720897 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VLDLR. Location: chromosome 9, position 2,648,747. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

VLDLRConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:2648747
Cytoband
9p24.2
HGVS
NM_003383.5(VLDLR):c.2041C>T (p.Leu681=)
Allele change
Synonymous_L681L

Associated conditions / phenotypes

Congenital cerebellar hypoplasia|Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1

Public references

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