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Variant (rsID / SNP)

rs377656387

ETFDH

rs377656387 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ETFDH. Location: chromosome 4, position 159,627,503. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ETFDHPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
4:159627503
Cytoband
4q32.1
HGVS
NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu)
Allele change
Missense_P436L

Associated conditions / phenotypes

Glutaric acidemia iic, late-onset|Multiple acyl-CoA dehydrogenase deficiency|Acyl-CoA dehydrogenase deficiency, glutaric acidemia type II|Glutaric acidemia type 2C

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.