Variant (rsID / SNP)
rs184587113
rs184587113 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ETFA. Location: chromosome 15, position 76,587,925. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ETFAConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:76587925
- Cytoband
- 15q24.2
- HGVS
- NM_000126.4(ETFA):c.186+7A>G
- Allele change
- Silent
Associated conditions / phenotypes
Multiple acyl-CoA dehydrogenase deficiency|Glutaric acidemia type 2A
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
