Variant (rsID / SNP)

rs148645836

rs148645836 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDHX. Location: chromosome 11, position 34,988,219. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PDHXUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:34988219
Cytoband: 11p13
HGVS: NM_003477.3(PDHX):c.674C>T (p.Thr225Met)
Allele change: Missense_T210M

Associated conditions / phenotypes

Pyruvate dehydrogenase E3-binding protein 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.