Variant (rsID / SNP)
rs121964988
rs121964988 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DLD. Location: chromosome 7, position 107,559,543. Clinical significance in the table: Pathogenic.
Reference-table entries
DLDPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:107559543
- Cytoband
- 7q31.1
- HGVS
- NM_000108.5(DLD):c.1463C>T (p.Pro488Leu)
- Allele change
- Missense_P488L
Associated conditions / phenotypes
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.