Variant (rsID / SNP)

rs2229137

rs2229137 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDHA1. Clinical significance in the table: Benign.

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Reference-table entries

PDHA1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: Xp22.12
HGVS: NM_000284.4(PDHA1):c.844A>C (p.Met282Leu)
Allele change: Missense_M289L

Associated conditions / phenotypes

Pyruvate dehydrogenase E1-alpha deficiency|History of neurodevelopmental disorder|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.