Variant (rsID / SNP)

rs148651921

rs148651921 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCCA. Location: chromosome 13, position 100,755,176. Clinical significance in the table: Likely benign.

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Reference-table entries

PCCALikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 13:100755176
Cytoband: 13q32.3
HGVS: NM_000282.4(PCCA):c.145C>T (p.Arg49Cys)
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.