Variant (rsID / SNP)

rs199835215

rs199835215 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DLAT. Location: chromosome 11, position 111,908,037. Clinical significance in the table: Likely benign.

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Reference-table entries

DLATLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:111908037
Cytoband: 11q23.1
HGVS: NM_001931.5(DLAT):c.828G>T (p.Leu276=)
Allele change: Synonymous_L276L

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.