Variant (rsID / SNP)

rs375528540

rs375528540 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PC. Location: chromosome 11, position 66,618,710. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PCUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:66618710
Cytoband: 11q13.2
HGVS: NM_001040716.2(PC):c.2024G>A (p.Arg675His)
Allele change: Missense_R675H

Associated conditions / phenotypes

Pyruvate carboxylase deficiency

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.