Variant (rsID / SNP)

rs75077312

rs75077312 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DLD. Location: chromosome 7, position 107,531,729. 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: 7:107531729
Cytoband: 7q31.1
HGVS: NM_000108.5(DLD):c.34G>A (p.Ala12Thr)
Allele change: Missense_A12T

Associated conditions / phenotypes

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