Variant (rsID / SNP)

rs2956114

rs2956114 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDHX. Location: chromosome 11, position 34,937,813. Clinical significance in the table: Benign.

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Reference-table entries

PDHXBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:34937813
Cytoband: 11p13
HGVS: NM_015957.4(APIP):c.19C>T (p.Arg7Trp)
Allele change: Missense_R7W

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.