Variant (rsID / SNP)

rs34453495

rs34453495 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DLD. Location: chromosome 7, position 107,559,502. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DLDBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:107559502
Cytoband: 7q31.1
HGVS: NM_000108.5(DLD):c.1422A>C (p.Gly474=)
Allele change: Synonymous_G474G

Associated conditions / phenotypes

Pyruvate dehydrogenase E3 deficiency|Pyruvate dehydrogenase complex deficiency|Leigh syndrome

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.