Variant (rsID / SNP)

rs398124151

rs398124151 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ETFDH. Location: chromosome 4, position 159,624,692. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ETFDHPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:159624692
Cytoband: 4q32.1
HGVS: NM_004453.4(ETFDH):c.1234G>T (p.Glu412Ter)
Allele change: Nonsense_E365X

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.