Variant (rsID / SNP)

rs186031457

rs186031457 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCCB. Location: chromosome 3, position 135,975,430. Clinical significance in the table: Pathogenic.

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Reference-table entries

PCCBPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:135975430
Cytoband: 3q22.3
HGVS: NM_000532.5(PCCB):c.337C>T (p.Arg113Ter)
Allele change: Nonsense_R113X

Associated conditions / phenotypes

Propionic acidemia|Abnormality of metabolism/homeostasis

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.