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Variant (rsID / SNP)

rs772731615

VRK1

rs772731615 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VRK1. Location: chromosome 14, position 97,326,965. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

VRK1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:97326965
Cytoband
14q32.2
HGVS
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys)
Allele change
Missense_R321C

Associated conditions / phenotypes

Pontocerebellar hypoplasia type 1A|Congenital pontocerebellar hypoplasia type 1|Juvenile amyotrophic lateral sclerosis

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.