Variant (rsID / SNP)

rs121964954

rs121964954 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ETFDH. Location: chromosome 4, position 159,603,421. Clinical significance in the table: Pathogenic.

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Reference-table entries

ETFDHPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:159603421
Cytoband: 4q32.1
HGVS: NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr)
Allele change: Missense_A37T

Associated conditions / phenotypes

Glutaric acidemia IIc|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.