Variant (rsID / SNP)

rs11542399

rs11542399 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDHB. Location: chromosome 3, position 58,417,676. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PDHBBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:58417676
Cytoband: 3p14.3
HGVS: NM_000925.4(PDHB):c.132T>C (p.Asp44=)
Allele change: Synonymous_D44D

Associated conditions / phenotypes

Pyruvate dehydrogenase E1-beta deficiency|Pyruvate dehydrogenase complex 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.