Variant (rsID / SNP)

rs137853258

rs137853258 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDHA1. Clinical significance in the table: Pathogenic.

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Reference-table entries

PDHA1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp22.12
HGVS: NM_000284.4(PDHA1):c.863G>A (p.Arg288His)
Allele change: Missense_R295H

Associated conditions / phenotypes

Pyruvate dehydrogenase E1-alpha 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.