Variant (rsID / SNP)

rs201243189

rs201243189 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDHB. Location: chromosome 3, position 58,419,562. Clinical significance in the table: Benign.

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Reference-table entries

PDHBBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:58419562
Cytoband: 3p14.3
HGVS: NM_000925.3(PDHB):c.-26G>A
Allele change: Silent

Associated conditions / phenotypes

Pyruvate dehydrogenase E1-beta 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.