Variant (rsID / SNP)

rs146561214

rs146561214 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ETFDH. Location: chromosome 4, position 159,627,538. Clinical significance in the table: Benign.

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Reference-table entries

ETFDHBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 4:159627538
Cytoband: 4q32.1
HGVS: NM_004453.4(ETFDH):c.1468+15A>C
Allele change: Silent

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.