Variant (rsID / SNP)

rs118169528

rs118169528 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCCA. Location: chromosome 13, position 101,020,758. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PCCAConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 13:101020758
Cytoband: 13q32.3
HGVS: NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu)
Allele change: Missense_W244L

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.