Variant (rsID / SNP)
rs371295780
rs371295780 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VRK1. Location: chromosome 14, position 97,313,663. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
VRK1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:97313663
- Cytoband
- 14q32.2
- HGVS
- NM_003384.3(VRK1):c.356A>G (p.His119Arg)
- Allele change
- Missense_H119R
Associated conditions / phenotypes
Pontocerebellar hypoplasia type 1A|Congenital pontocerebellar hypoplasia type 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.