Variant (rsID / SNP)

rs386134168

rs386134168 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRKCG. Location: chromosome 19, position 54,393,155. Clinical significance in the table: Pathogenic.

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Reference-table entries

PRKCGPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:54393155
Cytoband: 19q13.42
HGVS: NM_002739.5(PRKCG):c.413T>A (p.Val138Glu)
Allele change: Missense_V138E

Associated conditions / phenotypes

Spinocerebellar ataxia type 14

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.