Variant (rsID / SNP)

rs187554010

rs187554010 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCCA. Location: chromosome 13, position 100,809,605. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PCCABenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 13:100809605
Cytoband: 13q32.3
HGVS: NM_000282.4(PCCA):c.468+11A>C
Allele change: Silent

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.