Variant (rsID / SNP)

rs199959402

rs199959402 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.379C>T (p.Arg127Trp)
Allele change: Missense_R134W

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.