Variant (rsID / SNP)

rs572246667

rs572246667 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCCB. Location: chromosome 3, position 136,019,929. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

PCCBPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:136019929
Cytoband: 3q22.3
HGVS: NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter)
Allele change: Nonsense_Y314X

Associated conditions / phenotypes

Propionic acidemia

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.