Variant (rsID / SNP)

rs148723565

rs148723565 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDHX. Location: chromosome 11, position 34,979,062. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PDHXBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:34979062
Cytoband: 11p13
HGVS: NM_003477.3(PDHX):c.474G>A (p.Glu158=)
Allele change: Synonymous_E143E

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.