Variant (rsID / SNP)

rs121964958

rs121964958 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCCA. Location: chromosome 13, position 100,953,766. Clinical significance in the table: Pathogenic.

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Reference-table entries

PCCAPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 13:100953766
Cytoband: 13q32.3
HGVS: NM_000282.4(PCCA):c.1118T>A (p.Met373Lys)
Allele change: Missense_M58K

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.