Variant (rsID / SNP)

rs35948251

rs35948251 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VLDLR. Location: chromosome 9, position 2,648,223. Clinical significance in the table: Uncertain significance.

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Reference-table entries

VLDLRUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 9:2648223
Cytoband: 9p24.2
HGVS: NM_003383.5(VLDLR):c.1838G>A (p.Arg613His)
Allele change: Missense_R613H

Associated conditions / phenotypes

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

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.