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Variant (rsID / SNP)

rs139052284

PDHX

rs139052284 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDHX. Location: chromosome 11, position 34,982,013. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PDHXConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:34982013
Cytoband
11p13
HGVS
NM_003477.3(PDHX):c.589C>A (p.Leu197Met)
Allele change
Missense_L182M

Associated conditions / phenotypes

Pyruvate dehydrogenase E3-binding protein deficiency

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.