Variant (rsID / SNP)

rs121964992

rs121964992 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DLD. Location: chromosome 7, position 107,557,794. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

DLDPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:107557794
Cytoband: 7q31.1
HGVS: NM_000108.5(DLD):c.1123G>A (p.Glu375Lys)
Allele change: Missense_E375K

Associated conditions / phenotypes

Pyruvate dehydrogenase E3 deficiency|DLD-Related Disorders|Inborn genetic diseases|See cases

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.