Variant (rsID / SNP)

rs10891314

rs10891314 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DLAT. Location: chromosome 11, position 111,916,647. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DLATBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:111916647
Cytoband: 11q23.1
HGVS: NM_001931.5(DLAT):c.1351G>A (p.Asp451Asn)
Allele change: Missense_D451N

Associated conditions / phenotypes

Pyruvate dehydrogenase E2 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.