Variant (rsID / SNP)

rs1801591

rs1801591 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ETFA. Location: chromosome 15, position 76,578,762. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ETFABenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 15:76578762
Cytoband: 15q24.2
HGVS: NM_000126.4(ETFA):c.512C>T (p.Thr171Ile)
Allele change: Missense_T122I

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.