Variant (rsID / SNP)
rs780768015
rs780768015 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ETFDH. Location: chromosome 4, position 159,627,843. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ETFDHConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:159627843
- Cytoband
- 4q32.1
- HGVS
- NM_004453.4(ETFDH):c.1531G>A (p.Asp511Asn)
- Allele change
- Missense_D464N
Associated conditions / phenotypes
Multiple acyl-CoA dehydrogenase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.