Variant (rsID / SNP)
rs6145
rs6145 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VLDLR. Location: chromosome 9, position 2,651,962. Clinical significance in the table: Benign.
Reference-table entries
VLDLRBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:2651962
- Cytoband
- 9p24.2
- HGVS
- NM_003383.5(VLDLR):c.2416+8G>T
- Allele change
- Silent
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.
