Variant (rsID / SNP)

rs140169311

rs140169311 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ETFA. Location: chromosome 15, position 76,578,741. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ETFAConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 15:76578741
Cytoband: 15q24.2
HGVS: NM_000126.4(ETFA):c.533C>G (p.Thr178Arg)
Allele change: Missense_T129R

Associated conditions / phenotypes

Multiple acyl-CoA dehydrogenase 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.