Variant (rsID / SNP)

rs11559290

rs11559290 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ETFDH. Location: chromosome 4, position 159,601,676. Clinical significance in the table: Benign.

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Reference-table entries

ETFDHBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 4:159601676
Cytoband: 4q32.1
HGVS: NM_004453.4(ETFDH):c.92C>T (p.Thr31Ile)
Allele change: Silent

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.