Variant (rsID / SNP)

rs144600646

rs144600646 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VRK1. Location: chromosome 14, position 97,321,591. Clinical significance in the table: Uncertain significance.

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Reference-table entries

VRK1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 14:97321591
Cytoband: 14q32.2
HGVS: NM_003384.3(VRK1):c.607C>T (p.Arg203Trp)
Allele change: Missense_R203W

Associated conditions / phenotypes

Congenital pontocerebellar hypoplasia type 1|Pontocerebellar hypoplasia type 1A|Distal spinal muscular atrophy

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.