Variant (rsID / SNP)

rs121964960

rs121964960 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCCB. Location: chromosome 3, position 135,980,866. 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: 3:135980866
Cytoband: 3q22.3
HGVS: NM_000532.5(PCCB):c.502G>A (p.Glu168Lys)
Allele change: Missense_E168K

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.