Variant (rsID / SNP)
rs2228664
rs2228664 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DLD. Location: chromosome 7, position 107,542,820. Clinical significance in the table: Benign.
Reference-table entries
DLDBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:107542820
- Cytoband
- 7q31.1
- HGVS
- NM_000108.5(DLD):c.249T>C (p.Val83=)
- Allele change
- Synonymous_V83V
Associated conditions / phenotypes
Leigh syndrome|Pyruvate dehydrogenase complex deficiency|Pyruvate dehydrogenase E3 deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.