Variant (rsID / SNP)

rs377686388

rs377686388 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ETFDH. Location: chromosome 4, position 159,620,167. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ETFDHPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:159620167
Cytoband: 4q32.1
HGVS: NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro)
Allele change: Missense_L287P

Associated conditions / phenotypes

Multiple acyl-CoA dehydrogenase deficiency|Glutaric acidemia type 2C

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.