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Variant (rsID / SNP)

rs148487944

VLDLR

rs148487944 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VLDLR. Location: chromosome 9, position 2,646,492. 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
9:2646492
Cytoband
9p24.2
HGVS
NM_003383.5(VLDLR):c.1643A>G (p.Lys548Arg)
Allele change
Missense_K548R

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.