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Variant (rsID / SNP)

rs137853063

VRK1

rs137853063 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VRK1. Location: chromosome 14, position 97,342,370. Clinical significance in the table: Pathogenic.

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Reference-table entries

VRK1Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
14:97342370
Cytoband
14q32.2
HGVS
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter)
Allele change
Nonsense_R358X

Associated conditions / phenotypes

Pontocerebellar hypoplasia type 1A|Multiple congenital anomalies|Inborn genetic diseases|Congenital pontocerebellar hypoplasia type 1|Abnormality of the musculature

Public references

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