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Variant (rsID / SNP)

rs200500508

DLAT

rs200500508 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DLAT. Location: chromosome 11, position 111,899,581. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DLATConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:111899581
Cytoband
11q23.1
HGVS
NM_001931.5(DLAT):c.572C>T (p.Ala191Val)
Allele change
Missense_A191V

Associated conditions / phenotypes

Pyruvate dehydrogenase E2 deficiency

Public references

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