Variant (rsID / SNP)
rs61749952
rs61749952 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DLD. Location: chromosome 7, position 107,545,910. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
DLDConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:107545910
- Cytoband
- 7q31.1
- HGVS
- NM_000108.5(DLD):c.543A>T (p.Ile181=)
- Allele change
- Synonymous_I181I
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.